Published in Science on April 21, 1989
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The "megaprimer" method of site-directed mutagenesis. Biotechniques (1990) 11.92
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Diagnosis of Duchenne dystrophy by enhanced detection of small mutations. Neurology (2001) 2.13
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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
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Direct sequencing from touch preparations of human carcinomas: analysis of p53 mutations in breast carcinomas. J Natl Cancer Inst (1991) 1.77
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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
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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
A past mutation at isoleucine 397 is now a common cause of moderate/mild haemophilia B. Br J Haematol (1990) 1.29
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High frequency of de novo mutations in Li-Fraumeni syndrome. J Med Genet (2009) 1.19
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
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
Anaphylactic response to factor IX replacement therapy in haemophilia B patients: complete gene deletions confer the highest risk. Haemophilia (1999) 1.08
Database of mutations in the p53 and APC tumor suppressor genes designed to facilitate molecular epidemiological analyses. Hum Mutat (1996) 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
Detection of virtually all mutations-SSCP (DOVAM-S): a rapid method for mutation scanning with virtually 100% sensitivity. Biotechniques (1999) 1.05
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The pattern of factor IX germ-line mutation in Asians is similar to that of Caucasians. Am J Hum Genet (1990) 1.00
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pK-matched running buffers for gel electrophoresis. Anal Biochem (1999) 0.98
p53 wild-type and p53 nullizygous Big Blue transgenic mice have similar frequencies and patterns of observed mutation in liver, spleen and brain. Oncogene (1995) 0.98
Direct carrier testing in 14 families with haemophilia B. Lancet (1989) 0.98
Subcycling-PCR for multiplex long-distance amplification of regions with high and low GC content: application to the inversion hotspot in the factor VIII gene. Biotechniques (1998) 0.96
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
The rates and patterns of deletions in the human factor IX gene. Am J Hum Genet (1994) 0.96
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Novel pattern of P53 mutation in breast cancers from Austrian women. J Clin Invest (1995) 0.95
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Evidence that descendants of three founders constitute about 25% of hemophilia B in the United States. Genomics (1991) 0.94
SSCP analysis of long DNA fragments in low pH gel. Hum Mutat (1997) 0.94
High frequency of p53 gene mutations in primary breast cancers in Japanese women, a low-incidence population. Br J Cancer (1996) 0.94
Novel pattern of p53 gene mutations in an American black cohort with high mortality from breast cancer. Lancet (1994) 0.94
Simultaneous detection of multiple single-base alleles at a polymorphic site. Biotechniques (1991) 0.93
A postulated mechanism for deletions with inversions. Am J Hum Genet (1993) 0.93
Bi-directional dideoxy fingerprinting (Bi-ddF): a rapid method for quantitative detection of mutations in genomic regions of 300-600 bp. Hum Mol Genet (1996) 0.92
Hemophilia B in a male with a four-base insertion that arose in the germline of his mother. Nucleic Acids Res (1989) 0.92
Direct sequencing of the dopamine D2 receptor (DRD2) in schizophrenics reveals three polymorphisms but no structural change in the receptor. Genomics (1991) 0.92
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Why does the human factor IX gene have a G + C content of 40%? Am J Hum Genet (1991) 0.91
Overexpression and mutations of p53 in metastatic malignant melanomas. Int J Cancer (1996) 0.90
Spontaneous mutation in Big Blue transgenic mice: analysis of age, gender, and tissue type. Environ Mol Mutagen (1996) 0.90
Two-tiered DNA-based diagnosis of transthyretin amyloidosis reveals two novel point mutations. Neurology (1991) 0.89
Spontaneous mutations in the Big Blue transgenic system are primarily mouse derived. Mutat Res (1999) 0.89
Characterization of the patterns of polymorphism in a "cryptic repeat" reveals a novel type of hypervariable sequence. Am J Hum Genet (1993) 0.88
A prospective trial of midwest breast cancer patients: a p53 gene mutation is the most important predictor of adverse outcome. Int J Cancer (2000) 0.88
Tandem-base mutations occur in mouse liver and adipose tissue preferentially as G:C to T:A transversions and accumulate with age. Environ Mol Mutagen (1999) 0.88
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Increased mutation frequency and altered spectrum in one of four thymic lymphomas derived from tumor prone p53/Big Blue double transgenic mice. Oncogene (1996) 0.87
Inhibition of PCR amplification by a point mutation downstream of a primer. Biotechniques (1997) 0.87