Published in Am J Hum Genet on September 01, 1989
Screening for mutations by RNA single-strand conformation polymorphism (rSSCP): comparison with DNA-SSCP. Nucleic Acids Res (1992) 2.19
Mutation rates in humans. II. Sporadic mutation-specific rates and rate of detrimental human mutations inferred from hemophilia B. Am J Hum Genet (1999) 1.86
Mutations causing hemophilia B: direct estimate of the underlying rates of spontaneous germ-line transitions, transversions, and deletions in a human gene. Am J Hum Genet (1990) 1.78
The incidence and distribution of CpG----TpG transitions in the coagulation factor IX gene. A fresh look at CpG mutational hotspots. Nucleic Acids Res (1990) 1.64
Haemophilia B: database of point mutations and short additions and deletions--fourth edition, 1993. Nucleic Acids Res (1993) 1.49
Analysis of CpG suppression in methylated and nonmethylated species. Proc Natl Acad Sci U S A (1992) 1.46
Haemophilia B (sixth edition): a database of point mutations and short additions and deletions. Nucleic Acids Res (1996) 1.44
Haemophilia B: database of point mutations and short additions and deletions--third edition, 1992. Nucleic Acids Res (1992) 1.36
Identical mutations in unrelated families with generalized resistance to thyroid hormone occur in cytosine-guanine-rich areas of the thyroid hormone receptor beta gene. Analysis of 15 families. J Clin Invest (1993) 1.33
Haemophilia B: database of point mutations and short additions and deletions--second edition. Nucleic Acids Res (1991) 1.29
Recurrent mutation, gene conversion, or recombination at the human phenylalanine hydroxylase locus: evidence in French-Canadians and a catalog of mutations. Am J Hum Genet (1990) 1.28
Haemophilia B: database of point mutations and short additions and deletions, fifth edition, 1994. Nucleic Acids Res (1994) 1.21
Haemophilia B: database of point mutations and short additions and deletions. Nucleic Acids Res (1990) 1.20
Somatic mosaicism and female-to-female transmission in a kindred with hemophilia B (factor IX deficiency). Proc Natl Acad Sci U S A (1991) 1.14
The Italian haemophilia B mutation database: a tool for genetic counselling, carrier detection and prenatal diagnosis. Blood Transfus (2007) 1.01
Familial hypothyroidism caused by a nonsense mutation in the thyroid-stimulating hormone beta-subunit gene. Am J Hum Genet (1990) 1.00
The pattern of factor IX germ-line mutation in Asians is similar to that of Caucasians. Am J Hum Genet (1990) 1.00
Missense mutations and evolutionary conservation of amino acids: evidence that many of the amino acids in factor IX function as "spacer" elements. Am J Hum Genet (1991) 0.96
Six novel deleterious and three neutral mutations in the gene encoding the alpha-subunit of hexosaminidase A in non-Jewish individuals. Am J Hum Genet (1992) 0.94
Hemophilia B in a male with a four-base insertion that arose in the germline of his mother. Nucleic Acids Res (1989) 0.92
Why does the human factor IX gene have a G + C content of 40%? Am J Hum Genet (1991) 0.91
Structural and functional basis of the developmental regulation of human coagulation factor IX gene: factor IX Leyden. Proc Natl Acad Sci U S A (1990) 0.91
Factor IXMadrid 2: a deletion/insertion in factor IX gene which abolishes the sequence of the donor junction at the exon IV-intron d splice site. Am J Hum Genet (1992) 0.91
Hemophilia B: molecular pathogenesis and mutation analysis. J Thromb Haemost (2015) 0.90
gamma-Carboxyglutamic acids 36 and 40 do not contribute to human factor IX function. Protein Sci (1997) 0.90
Mutations at arginine residues in two Asian hemophilia B patients. Nucleic Acids Res (1990) 0.84
Germ-line mosaicism for a valine-to-methionine substitution at residue 553 in the glycoprotein Ib-binding domain of von Willebrand factor, causing type IIB von Willebrand disease. Am J Hum Genet (1992) 0.83
Haplotype analysis of the human apolipoprotein B mutation associated with familial defective apolipoprotein B100. Am J Hum Genet (1990) 0.83
Restriction fragment length polymorphisms associated with the factor VIII and factor IX genes in Polynesians. J Med Genet (1991) 0.81
In silico profiling of deleterious amino acid substitutions of potential pathological importance in haemophlia A and haemophlia B. J Biomed Sci (2012) 0.79
Mutation analysis of a cohort of US patients with hemophilia B. Am J Hematol (2014) 0.78
PRE: a novel element with the hallmarks of a retrotransposon derived from an unknown structural RNA. Nucleic Acids Res (1992) 0.77
Prediction of the gene expression in normal lung tissue by the gene expression in blood. BMC Med Genomics (2015) 0.75
Isoleucine397 is changed to threonine in two females with hemophilia B. Nucleic Acids Res (1991) 0.75
Clinical significance of gene-diagnosis for defects in coagulation factors and inhibitors. Wien Klin Wochenschr (2003) 0.75
CpG-rich islands and the function of DNA methylation. Nature (1986) 24.90
Generation of single-stranded DNA by the polymerase chain reaction and its application to direct sequencing of the HLA-DQA locus. Proc Natl Acad Sci U S A (1988) 18.72
Molecular basis of base substitution hotspots in Escherichia coli. Nature (1978) 13.79
Nucleotide sequence of the gene for human factor IX (antihemophilic factor B). Biochemistry (1985) 11.80
Characterization of beta-thalassaemia mutations using direct genomic sequencing of amplified single copy DNA. Nature (1987) 8.58
The CpG dinucleotide and human genetic disease. Hum Genet (1988) 7.86
A strategy to reveal high-frequency RFLPs along the human X chromosome. Am J Hum Genet (1984) 7.73
Genomic amplification with transcript sequencing. Science (1988) 7.52
Estimation of genetic variation at the DNA level from restriction endonuclease data. Proc Natl Acad Sci U S A (1981) 4.71
Access to a messenger RNA sequence or its protein product is not limited by tissue or species specificity. Science (1989) 4.48
Direct sequencing of enzymatically amplified human genomic DNA. Proc Natl Acad Sci U S A (1988) 4.41
The gene structure of human anti-haemophilic factor IX. EMBO J (1984) 4.09
Isolation and characterization of a cDNA coding for human factor IX. Proc Natl Acad Sci U S A (1982) 3.14
Isolation of probes detecting restriction fragment length polymorphisms from X chromosome-specific libraries: potential use for diagnosis of Duchenne muscular dystrophy. Hum Genet (1985) 3.08
DNA restriction fragment length polymorphisms and heterozygosity in the human genome. Hum Genet (1984) 2.79
Isolation of a human anti-haemophilic factor IX cDNA clone using a unique 52-base synthetic oligonucleotide probe deduced from the amino acid sequence of bovine factor IX. Nucleic Acids Res (1983) 2.56
Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots. Nature (1987) 2.49
Diverse point mutations in the human glucose-6-phosphate dehydrogenase gene cause enzyme deficiency and mild or severe hemolytic anemia. Proc Natl Acad Sci U S A (1988) 2.33
Parameters affecting the yield of DNA from human blood. Anal Biochem (1987) 2.20
DNA polymorphism and molecular pathology of the human globin gene clusters. Hum Genet (1985) 2.09
Carrier detection in haemophilia B using two further intragenic restriction fragment length polymorphisms. Nucleic Acids Res (1984) 2.00
Nonsense and missense mutations in hemophilia A: estimate of the relative mutation rate at CG dinucleotides. Am J Hum Genet (1988) 1.93
Comparison of amino acid sequence of bovine coagulation Factor IX (Christmas Factor) with that of other vitamin K-dependent plasma proteins. Proc Natl Acad Sci U S A (1979) 1.77
Identification of the molecular defect in factor IX Chapel Hill: substitution of histidine for arginine at position 145. Proc Natl Acad Sci U S A (1983) 1.57
Differentiation of metal ion-induced transitions of prothrombin fragment 1. J Biol Chem (1977) 1.35
Next-nucleotide effects in mutations driven by DNA precursor pool imbalances at the aprt locus of Chinese hamster ovary cells. Proc Natl Acad Sci U S A (1987) 1.28
Two novel point mutations correlate with an altered developmental expression of blood coagulation factor IX (hemophilia B Leyden phenotype). Blood (1989) 1.09
Evidence for a prevalent dimorphism in the activation peptide of human coagulation factor IX. Proc Natl Acad Sci U S A (1985) 1.09
Use of a BamHI polymorphism in the factor IX gene for the determination of hemophilia B carrier status. Blood (1986) 1.04
Genetic defect responsible for the dysfunctional protein: factor IXLong Beach. Blood (1988) 0.99
Isolation and characterization of human factor IX cDNA: identification of Taq I polymorphism and regional assignment. Somat Cell Mol Genet (1984) 0.97
Population genetics of coagulant factor IX: frequencies of two DNA polymorphisms in five ethnic groups. Am J Hum Genet (1987) 0.95
Diagnosis of haemophilia B carriers using intragenic oligonucleotide probes. Lancet (1986) 0.89
Carrier testing in hemophilia B with an immunoassay that distinguishes a prevalent factor IX dimorphism. Blood (1987) 0.89
The "megaprimer" method of site-directed mutagenesis. Biotechniques (1990) 11.92
Genomic amplification with transcript sequencing. Science (1988) 7.52
Rad51-deficient vertebrate cells accumulate chromosomal breaks prior to cell death. EMBO J (1998) 6.65
Shedding light on PCR contamination. Nature (1990) 6.49
Genotype relative risks: methods for design and analysis of candidate-gene association studies. Am J Hum Genet (1993) 6.02
A mouse cytoplasmic exoribonuclease (mXRN1p) with preference for G4 tetraplex substrates. J Cell Biol (1997) 4.93
Access to a messenger RNA sequence or its protein product is not limited by tissue or species specificity. Science (1989) 4.48
Comparison of statistics for candidate-gene association studies using cases and parents. Am J Hum Genet (1994) 3.86
Formamide can dramatically improve the specificity of PCR. Nucleic Acids Res (1990) 3.38
Reduced X-ray resistance and homologous recombination frequencies in a RAD54-/- mutant of the chicken DT40 cell line. Cell (1997) 3.23
Superkiller mutations in Saccharomyces cerevisiae suppress exclusion of M2 double-stranded RNA by L-A-HN and confer cold sensitivity in the presence of M and L-A-HN. Mol Cell Biol (1984) 2.88
The generation of radiolabeled DNA and RNA probes with polymerase chain reaction. Anal Biochem (1989) 2.83
Analysis of the neuroligin 3 and 4 genes in autism and other neuropsychiatric patients. Mol Psychiatry (2005) 2.78
Yeast KRE genes provide evidence for a pathway of cell wall beta-glucan assembly. J Cell Biol (1990) 2.74
General method for amplifying regions of very high G+C content. Nucleic Acids Res (1993) 2.68
Multiple functions for sterols in Saccharomyces cerevisiae. Biochim Biophys Acta (1985) 2.40
Characterization of the roles of the Saccharomyces cerevisiae RAD54 gene and a homologue of RAD54, RDH54/TID1, in mitosis and meiosis. Genetics (1997) 2.31
Genotypic detection of Mycobacterium tuberculosis rifampin resistance: comparison of single-strand conformation polymorphism and dideoxy fingerprinting. J Clin Microbiol (1995) 2.26
Parameters affecting the yield of DNA from human blood. Anal Biochem (1987) 2.20
Blind analysis of denaturing high-performance liquid chromatography as a tool for mutation detection. Genomics (1998) 2.19
Homologous recombination, but not DNA repair, is reduced in vertebrate cells deficient in RAD52. Mol Cell Biol (1998) 2.19
Screening for mutations by RNA single-strand conformation polymorphism (rSSCP): comparison with DNA-SSCP. Nucleic Acids Res (1992) 2.19
The molecular epidemiology of p53 gene mutations in human breast cancer. Trends Genet (1997) 2.14
Diagnosis of Duchenne dystrophy by enhanced detection of small mutations. Neurology (2001) 2.13
Yeast L dsRNA consists of at least three distinct RNAs; evidence that the non-Mendelian genes [HOK], [NEX] and [EXL] are on one of these dsRNAs. Cell (1982) 2.12
Mutant loxP vectors for selectable marker recycle and conditional knock-outs. BMC Biotechnol (2001) 2.09
Specific amplification with PCR of a refractory segment of genomic DNA. Nucleic Acids Res (1988) 2.00
The yeast KRE5 gene encodes a probable endoplasmic reticulum protein required for (1----6)-beta-D-glucan synthesis and normal cell growth. Mol Cell Biol (1990) 1.96
Novel association approach for determining the genetic predisposition to schizophrenia: case-control resource and testing of a candidate gene. Am J Med Genet (1993) 1.95
Delineation of genetic predisposition to multifactorial disease: a general approach on the threshold of feasibility. Genomics (1992) 1.95
First report on chicken genes and chromosomes 2000. Cytogenet Cell Genet (2000) 1.92
A chicken RAD51 homologue is expressed at high levels in lymphoid and reproductive organs. Nucleic Acids Res (1993) 1.89
PCR amplification of specific alleles (PASA) is a general method for rapidly detecting known single-base changes. Biotechniques (1992) 1.85
Mutations causing hemophilia B: direct estimate of the underlying rates of spontaneous germ-line transitions, transversions, and deletions in a human gene. Am J Hum Genet (1990) 1.78
RNA amplification with transcript sequencing (RAWTS). Nucleic Acids Res (1988) 1.77
Direct sequencing from touch preparations of human carcinomas: analysis of p53 mutations in breast carcinomas. J Natl Cancer Inst (1991) 1.77
Human and mouse homologs of the Saccharomyces cerevisiae RAD54 DNA repair gene: evidence for functional conservation. Curr Biol (1996) 1.73
Characterization of polymerase chain reaction amplification of specific alleles. Anal Biochem (1990) 1.70
Germ-line origins of mutation in families with hemophilia B: the sex ratio varies with the type of mutation. Am J Hum Genet (1993) 1.66
Cloning of human and mouse genes homologous to RAD52, a yeast gene involved in DNA repair and recombination. Mutat Res (1994) 1.64
Gene structure alternative splicing, and chromosomal localization of pro-apoptotic Bcl-2 relative Bim. Mamm Genome (2001) 1.62
Overlapping PCR for bidirectional PCR amplification of specific alleles: a rapid one-tube method for simultaneously differentiating homozygotes and heterozygotes. Genome Res (1997) 1.60
Co-curing of plasmids affecting killer double-stranded RNAs of Saccharomyces cerevisiae: [HOK], [NEX], and the abundance of L are related and further evidence that M1 requires L. J Bacteriol (1982) 1.59
Factor VIII gene inversions in severe hemophilia A: results of an international consortium study. Blood (1995) 1.59
Identification of a chicken RAD52 homologue suggests conservation of the RAD52 recombination pathway throughout the evolution of higher eukaryotes. Nucleic Acids Res (1993) 1.57
The assignment of chain specificities for anti-Ia monoclonal antibodies using L cell transfectants. J Immunol (1986) 1.54
A novel method for detecting point mutations or polymorphisms and its application to population screening for carriers of phenylketonuria. Mayo Clin Proc (1989) 1.54
Haemophilia B: database of point mutations and short additions and deletions--eighth edition. Nucleic Acids Res (1998) 1.54
Yeast sterols: yeast mutants as tools for the study of sterol metabolism. Methods Enzymol (1985) 1.50
Mutation detection by highly sensitive methods indicates that p53 gene mutations in breast cancer can have important prognostic value. Proc Natl Acad Sci U S A (1996) 1.45
Haemophilia B (sixth edition): a database of point mutations and short additions and deletions. Nucleic Acids Res (1996) 1.44
PCR amplification of specific alleles: rapid detection of known mutations and polymorphisms. Mutat Res (1993) 1.44
Dideoxy fingerprinting (ddE): a rapid and efficient screen for the presence of mutations. Genomics (1992) 1.43
Double-stranded DNA segments can efficiently prime the amplification of human genomic DNA. Nucleic Acids Res (1992) 1.37
Restriction endonuclease fingerprinting (REF): a sensitive method for screening mutations in long, contiguous segments of DNA. Biotechniques (1995) 1.34
Factor IX inhibitors and anaphylaxis in hemophilia B. J Pediatr Hematol Oncol (1997) 1.34
Frequency of recent retrotransposition events in the human factor IX gene. Hum Mutat (2001) 1.33
The Drosophila melanogaster RAD54 homolog, DmRAD54, is involved in the repair of radiation damage and recombination. Mol Cell Biol (1997) 1.29
A past mutation at isoleucine 397 is now a common cause of moderate/mild haemophilia B. Br J Haematol (1990) 1.29
Characterization of cell lines expressing mutant I-Ab and I-Ak molecules allows the definition of distinct serologic epitopes on A alpha and A beta polypeptides. J Immunol (1986) 1.28
A large database of chicken bursal ESTs as a resource for the analysis of vertebrate gene function. Genome Res (2000) 1.24
Haemophilia B: database of point mutations and short additions and deletions, fifth edition, 1994. Nucleic Acids Res (1994) 1.21
High frequency of de novo mutations in Li-Fraumeni syndrome. J Med Genet (2009) 1.19
Sterol methylation in Saccharomyces cerevisiae. J Bacteriol (1984) 1.17
Characterization of the Epha1 receptor tyrosine kinase: expression in epithelial tissues. Growth Factors (2001) 1.17
Removal of DNA contamination in polymerase chain reaction reagents by ultraviolet irradiation. Methods Enzymol (1993) 1.16
Parameters affecting the sensitivities of dideoxy fingerprinting and SSCP. PCR Methods Appl (1994) 1.14
A yeast antiviral protein, SKI8, shares a repeated amino acid sequence pattern with beta-subunits of G proteins and several other proteins. Yeast (1993) 1.14
p53 gene mutations inside and outside of exons 5-8: the patterns differ in breast and other cancers. Oncogene (1995) 1.13
Direct sequencing of the activation peptide and the catalytic domain of the factor IX gene in six species. Genomics (1990) 1.13
RAG-2 expression is not essential for chicken immunoglobulin gene conversion. Proc Natl Acad Sci U S A (1992) 1.12
Single-tube polymerase chain reaction for rapid diagnosis of the inversion hotspot of mutation in hemophilia A. Blood (1998) 1.12
Evidence that proximal multiple mutations in Big Blue transgenic mice are dependent events. Mutat Res (2000) 1.11
Parameters affecting susceptibility of PCR contamination to UV inactivation. Biotechniques (1991) 1.10
Pyrophosphorolysis-activated polymerization (PAP): application to allele-specific amplification. Biotechniques (2000) 1.09
Database of mutations in the p53 and APC tumor suppressor genes designed to facilitate molecular epidemiological analyses. Hum Mutat (1996) 1.08
Anaphylactic response to factor IX replacement therapy in haemophilia B patients: complete gene deletions confer the highest risk. Haemophilia (1999) 1.08
NIRCA: a rapid robust method for screening for unknown point mutations. Biotechniques (1996) 1.07
The rates of G:C-->T:A and G:C-->C:G transversions at CpG dinucleotides in the human factor IX gene. Am J Hum Genet (1994) 1.07
p53 gene mutations in breast cancers in midwestern US women: null as well as missense-type mutations are associated with poor prognosis. Oncogene (1994) 1.07
Recurrent nonsense mutations at arginine residues cause severe hemophilia B in unrelated hemophiliacs. Hum Genet (1990) 1.06
Gene conversion in the chicken immunoglobulin locus: a paradigm of homologous recombination in higher eukaryotes. Experientia (1994) 1.05
Detection of virtually all mutations-SSCP (DOVAM-S): a rapid method for mutation scanning with virtually 100% sensitivity. Biotechniques (1999) 1.05
Reported in vivo splice-site mutations in the factor IX gene: severity of splicing defects and a hypothesis for predicting deleterious splice donor mutations. Hum Mutat (1999) 1.04
Spontaneous microdeletions and microinsertions in a transgenic mouse mutation detection system: analysis of age, tissue, and sequence specificity. Environ Mol Mutagen (2001) 1.04
Segments containing alternating purine and pyrimidine dinucleotides: patterns of polymorphism in humans and prevalence throughout phylogeny. Nucleic Acids Res (1991) 1.02
"Cryptic" repeating triplets of purines and pyrimidines (cRRY(i)) are frequent and polymorphic: analysis of coding cRRY(i) in the proopiomelanocortin (POMC) and TATA-binding protein (TBP) genes. Am J Hum Genet (1993) 1.01
The size distributions of proteins, mRNA, and nuclear RNA. J Mol Evol (1980) 1.00
The pattern of factor IX germ-line mutation in Asians is similar to that of Caucasians. Am J Hum Genet (1990) 1.00
An orphaned mammalian beta-globin gene of ancient evolutionary origin. Proc Natl Acad Sci U S A (2001) 1.00
Gene disruption indicates that the only essential function of the SKI8 chromosomal gene is to protect Saccharomyces cerevisiae from viral cytopathology. Virology (1987) 1.00
Polymerase chain reaction amplification of specific alleles: a general method of detection of mutations, polymorphisms, and haplotypes. Methods Enzymol (1993) 0.99
Complex genetic predisposition to cancer in an extended HNPCC family with an ancestral hMLH1 mutation. J Med Genet (1996) 0.99
pK-matched running buffers for gel electrophoresis. Anal Biochem (1999) 0.98