Published in Nucleic Acids Res on January 11, 1991
Model of alpha 2-macroglobulin structure and function. Proc Natl Acad Sci U S A (1985) 1.79
Prenatal diagnosis of alpha-1-antitrypsin deficiency using oligonucleotide probe analysis. Hum Genet (1988) 1.63
Confirmation of linkage of Friedreich ataxia to chromosome 9 and identification of a new closely linked marker. Genomics (1989) 1.59
Haemophilia B: database of point mutations and short additions and deletions--third edition, 1992. Nucleic Acids Res (1992) 1.36
Identification of DNA gyrase A mutations in ciprofloxacin-resistant isolates of Salmonella typhimurium from men and cattle in Germany. Microb Drug Resist (1995) 1.31
Haemophilia B: database of point mutations and short additions and deletions--second edition. Nucleic Acids Res (1991) 1.29
Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene. Nucleic Acids Res (1991) 1.26
Phenylketonuria: distribution of DNA diagnostic patterns in German families. Hum Genet (1988) 1.24
A somatic mosaic for haemophilia A detected at the DNA level. Mol Biol Med (1988) 1.21
Characterization of mutations in the factor VIII gene by direct sequencing of amplified genomic DNA. Genomics (1990) 1.20
Haemophilia B: database of point mutations and short additions and deletions. Nucleic Acids Res (1990) 1.20
A leucine-to-proline substitution causes a defective alpha 1-antichymotrypsin allele associated with familial obstructive lung disease. Genomics (1993) 1.15
Recovery from hemophilia B Leyden: an androgen-responsive element in the factor IX promoter. Science (1992) 1.14
The molecular basis of alpha 1-antichymotrypsin deficiency in a heterozygote with liver and lung disease. J Hepatol (1993) 1.12
Characterization of the factor VIII defect in 147 patients with sporadic hemophilia A: family studies indicate a mutation type-dependent sex ratio of mutation frequencies. Am J Hum Genet (1996) 1.10
Molecular characterization of mild-to-moderate hemophilia A: detection of the mutation in 25 of 29 patients by denaturing gradient gel electrophoresis. Proc Natl Acad Sci U S A (1991) 1.08
Haemophilia A: mutation type determines risk of inhibitor formation. Thromb Haemost (1995) 1.07
Somatic mosaicism in hemophilia A: a fairly common event. Am J Hum Genet (2001) 1.03
Methylation levels at selected CpG sites in the factor VIII and FGFR3 genes, in mature female and male germ cells: implications for male-driven evolution. Am J Hum Genet (1998) 1.01
Parental origin of factor IX gene mutations, and their distribution in the gene. Am J Hum Genet (1992) 1.01
Mapping of DNA markers linked to the cystic fibrosis locus on the long arm of chromosome 7. Am J Hum Genet (1987) 1.00
Allelic dimorphism in the human tissue-type plasminogen activator (TPA) gene as a result of an Alu insertion/deletion event. Hum Genet (1992) 0.99
DNA polymorphisms of the alpha 1-antitrypsin gene region in patients with chronic obstructive pulmonary disease. Eur J Clin Invest (1990) 0.99
Pro-347-Arg mutation of the rhodopsin gene in autosomal dominant retinitis pigmentosa. Genomics (1991) 0.98
A human single-copy DNA probe (DR 47) detects a Taq I RFLP on chromosome 9 (D9S5). Nucleic Acids Res (1987) 0.97
Identification of a single nucleotide C-to-T transition and five different deletions in patients with severe hemophilia B. Am J Hum Genet (1989) 0.95
Mis-sense mutation of alpha 1-antichymotrypsin gene associated with chronic lung disease. Lancet (1992) 0.95
De novo factor VIII gene intron 22 inversion in a female carrier presents as a somatic mosaicism. Blood (2000) 0.94
Regeneration-associated high level expression of apolipoprotein D mRNA in endoneurial fibroblasts of peripheral nerve. EMBO J (1990) 0.93
Recurrent mutations in the factor IX gene: founder effect or repeat de novo events. Investigation of the German haemophilia B population and review of de novo mutations. Hum Genet (1993) 0.92
Molecular defects in hemophilia A: identification and characterization of mutations in the factor VIII gene and family analysis. Blood (1989) 0.92
Identification and DNA sequence analysis of 15 new alpha 1-antitrypsin variants, including two PI*Q0 alleles and one deficient PI*M allele. Am J Hum Genet (1994) 0.91
The deficient alpha-I-antitrypsin phenotype PI P is associated with an A-to-T transversion in exon III of the gene. Am J Hum Genet (1989) 0.89
Cystic fibrosis: typing 48 German families with linked DNA probes. Hum Genet (1987) 0.89
Chromosomal anchoring of linkage groups and identification of wing size QTL using markers and FISH probes derived from microdissected chromosomes in Nasonia (Pteromalidae: Hymenoptera). Cytogenet Genome Res (2004) 0.88
Compound heterozygotes in hyperphenylalaninaemia. Hum Genet (1984) 0.88
Direct and indirect estimation of the sex ratio of mutation frequencies in hemophilia A. Am J Hum Genet (1993) 0.87
Characterization of mutations within the factor VIII gene of 73 unrelated mild and moderate haemophiliacs. Br J Haematol (1995) 0.86
Diagnostic difficulties in glucokinase hyperinsulinism. Horm Metab Res (2008) 0.85
Haemophilia B+ with inhibitor. Thromb Haemost (1988) 0.84
Detection and characterisation of two missense mutations at a cleavage site in the factor VIII light chain. Thromb Res (1991) 0.83
Prenatal diagnosis of haemophilia B by the use of polymerase chain reaction and direct sequencing. Klin Wochenschr (1991) 0.83
Mutations in severe hemophilia A: distribution within the factor VIII gene, origin and influence on inhibitor development. Beitr Infusionsther Transfusionsmed (1997) 0.83
Highly variable clinical course in severe alpha 1-antitrypsin deficiency--use of polymerase chain reaction for the detection of rare deficiency alleles. Klin Wochenschr (1990) 0.82
Isolation and characterization of microsatellite marker loci in the greylag goose (Anser anser). Mol Ecol Resour (2008) 0.82
DNA polymorphisms associated with a new alpha 1-antitrypsin PIQ0 variant (PIQ0riedenburg). Hum Genet (1991) 0.82
Cystic fibrosis: typing 89 German families with linked DNA probes. Hum Genet (1988) 0.82
Comparison between intratracheal and intravenous administration of liposome-DNA complexes for cystic fibrosis lung gene therapy. Gene Ther (1998) 0.81
Hemophilia B caused by five different nondeletion mutations in the protease domain of factor IX. Blood (1992) 0.81
Identical point mutations in the factor VIII gene that have different clinical manifestations of hemophilia A. Am J Hum Genet (1990) 0.81
Cloning of the human alpha 2-macroglobulin gene and detection of mutations in two functional domains: the bait region and the thiolester site. Hum Genet (1992) 0.80
A G+3-to-T donor splice site mutation leads to skipping of exon 50 in von Willebrand factor mRNA. Genomics (1994) 0.80
Sequence data of the rare deficient alpha 1-antitrypsin variant PI Zaugsburg. Am J Hum Genet (1990) 0.80
Sequence analysis of the cystic fibrosis gene in patients with disseminated bronchiectatic lung disease. Application in the identification of a cystic fibrosis patient with atypical clinical course. Klin Wochenschr (1991) 0.80
Mutations in haemophilia A. Br J Haematol (1993) 0.79
[A new point mutation in the mitochondrial gene ND1, detected in a patient with type II diabetes]. Genetika (1995) 0.78
Free and conjugated CSF and plasma GABA in Huntington's chorea. Acta Neurol Scand (1986) 0.78
[Maternal transmission or bovine spongiform encephalopathy in the case of "Cindy" disproved]. Berl Munch Tierarztl Wochenschr (1997) 0.78
Clinical heterogeneity of 21-hydroxylase deficiency of sibs with identical 21-hydroxylase genes. Acta Endocrinol (Copenh) (1992) 0.78
DNA haplotyping of PI Z and M alleles within the German population. Am J Hum Genet (1988) 0.78
Quantitative analysis of phenylalanine metabolites in urine to detect heterozygotes of phenylketonuria. Humangenetik (1974) 0.78
Haemophilia A: carrier detection by DNA analysis. Blut (1988) 0.77
Hypersarcosinemia with craniostenosis-syndactylism syndrome. Humangenetik (1975) 0.77
Haemophilia A diagnosis by automated fluorescent DNA detection of ten factor VIII intron 13 dinucleotide repeat alleles. Blood Coagul Fibrinolysis (1994) 0.77
Molecular pathology of haemophilia A in Turkish patients: identification of 36 independent mutations. Haemophilia (2001) 0.77
Carnitine palmitoyltransferase II deficiency: molecular and biochemical analysis of 32 patients. Neurology (2003) 0.77
Sequence variant of the human cathepsin G gene. Hum Genet (1993) 0.76
PstI polymorphism of the alpha 1-antitrypsin-like gene. Nucleic Acids Res (1989) 0.75
Detection of a TaqI polymorphism within the human TPA gene (PLAT). Nucleic Acids Res (1991) 0.75
XmnI polymorphism in the human TPA gene. Nucleic Acids Res (1990) 0.75
An EcoRI polymorphism in the human von Willebrand factor (vWF) gene. Nucleic Acids Res (1989) 0.75
RFLP of the human c-fes proto-oncogene. Nucleic Acids Res (1988) 0.75
Microdissection and microcloning of the long arm of human chromosome 7. Mol Biol Rep (1987) 0.75
An anonymous single copy genomic probe (D8S9) (CW1) detects RFLP on chromosome 8. Nucleic Acids Res (1987) 0.75
[Allele-specific sequencing]. Dokl Akad Nauk (1995) 0.75
Prenatal diagnosis of cystic fibrosis. J Clin Chem Clin Biochem (1989) 0.75
Regional assignment of 41 human DNA fragments on chromosome 7 by means of a somatic cell hybrid panel. Hum Genet (1990) 0.75
Human cDNA probe detects RFLP on chromosome 12, OL 202 (HGM8 designated no. D12S9). Nucleic Acids Res (1986) 0.75
[Use of polymorphic DNA markers in the assessment of stains]. Beitr Gerichtl Med (1988) 0.75
Human cDNA probe (OL11) detects RFLP on chromosome 12 (D12S10). Nucleic Acids Res (1987) 0.75
Microdissection and microcloning of human chromosome 7q22-32 region. Somat Cell Mol Genet (1990) 0.75
Rapid expression of c-fos specific messenger RNA after wounding of a BALB/c-3T3 fibroblast monolayer. J Clin Chem Clin Biochem (1987) 0.75
The frequency of the CF delta F508 deletion in CF chromosomes of different ethnic origin. Hum Genet (1990) 0.75
The anonymous probe DR281 (D1S99) identifies a mspl polymorphism. Nucleic Acids Res (1990) 0.75
The anonymous probe DR258 (D7S438) identifies a HindIII polymorphism. Nucleic Acids Res (1990) 0.75
Human cDNA probe (OL167,D21S109) detects RFLP on chromosome 21. Nucleic Acids Res (1987) 0.75
Myotonic dystrophy and limb girdle muscular dystrophy in one family. Clin Investig (1994) 0.75
[Concentrations of free and bound 4-aminobutyric acid in human serum: reference values]. J Clin Chem Clin Biochem (1985) 0.75
[Primary lung cancer from biopsy material of the Pathomorphology Department of the Silesian Medical Academy in Zabrze]. Pneumonol Pol (1989) 0.75
[Forensic application of DNA fingerprints]. Beitr Gerichtl Med (1987) 0.75
Human cDNA probe (cCW147) detects RFLP on chromosome 5 (D5S9). Nucleic Acids Res (1987) 0.75
Cystic fibrosis in Argentina: the frequency of the delta F508 mutation. Hum Genet (1996) 0.75
Delta C in exon 18 of the von Willebrand gene is uncommon in German vWD type III patients. Thromb Haemost (1993) 0.75
HLA class I-, complement C4- and 21-hydroxylase probes in the genetic analysis of 21-hydroxylase deficiency. J Clin Chem Clin Biochem (1990) 0.75
Evaluation of random cDNA clones as probes for human restriction fragment length polymorphisms. J Clin Chem Clin Biochem (1988) 0.75