Published in Eur J Clin Invest on February 01, 1990
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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
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A leucine-to-proline substitution causes a defective alpha 1-antichymotrypsin allele associated with familial obstructive lung disease. Genomics (1993) 1.15
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Pro-347-Arg mutation of the rhodopsin gene in autosomal dominant retinitis pigmentosa. Genomics (1991) 0.98
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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
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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
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
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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
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Mutations in severe hemophilia A: distribution within the factor VIII gene, origin and influence on inhibitor development. Beitr Infusionsther Transfusionsmed (1997) 0.83
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
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
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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
Identical point mutations in the factor VIII gene that have different clinical manifestations of hemophilia A. Am J Hum Genet (1990) 0.81
Hemophilia B caused by five different nondeletion mutations in the protease domain of factor IX. Blood (1992) 0.81
Sequence data of the rare deficient alpha 1-antitrypsin variant PI Zaugsburg. Am J Hum Genet (1990) 0.80
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 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
DNA haplotyping of PI Z and M alleles within the German population. Am J Hum Genet (1988) 0.78
Clinical heterogeneity of 21-hydroxylase deficiency of sibs with identical 21-hydroxylase genes. Acta Endocrinol (Copenh) (1992) 0.78
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Quantitative analysis of phenylalanine metabolites in urine to detect heterozygotes of phenylketonuria. Humangenetik (1974) 0.78
Molecular pathology of haemophilia A in Turkish patients: identification of 36 independent mutations. Haemophilia (2001) 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
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RFLP of the human c-fes proto-oncogene. Nucleic Acids Res (1988) 0.75
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Sequence polymorphism in the human alpha-2-macroglobulin (A2M) gene. Nucleic Acids Res (1991) 0.75
PstI polymorphism of the alpha 1-antitrypsin-like gene. Nucleic Acids Res (1989) 0.75
An EcoRI polymorphism in the human von Willebrand factor (vWF) gene. Nucleic Acids Res (1989) 0.75
Detection of a TaqI polymorphism within the human TPA gene (PLAT). Nucleic Acids Res (1991) 0.75
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Simultaneous gas chromatographic determination of the cumene metabolites 2-phenylpropanol-1 and 2-phenylpropanol-2 in urine. J Chromatogr (1978) 0.75
Phenylketonuria in a patient with cystinuria. Humangenetik (1975) 0.75
The anonymous probe DR258 (D7S438) identifies a HindIII polymorphism. Nucleic Acids Res (1990) 0.75
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Microdissection and microcloning of human chromosome 7q22-32 region. Somat Cell Mol Genet (1990) 0.75
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An anonymous single copy genomic probe (D8S9) (CW1) detects RFLP on chromosome 8. Nucleic Acids Res (1987) 0.75
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[Excretion of transamination products in hyperphenylalaninemia (author's transl)]. Klin Wochenschr (1980) 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
Human cDNA probe detects RFLP on chromosome 12, OL 202 (HGM8 designated no. D12S9). Nucleic Acids Res (1986) 0.75
Comparison of a charcoal sorbent fiber with commercial charcoals for hemoperfusion. Artif Organs (1983) 0.75
Statistical evaluation of a new method to detect carriers of phenylketonuria. Humangenetik (1975) 0.75
[Quantitative fluorometric determination of 4-aminobutyric acid in cerebrospinal fluid using an amino acid analyzer]. J Clin Chem Clin Biochem (1984) 0.75
Cystinuric heterozygotes and cystine-loading. Humangenetik (1975) 0.75
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Evaluation of random cDNA clones as probes for human restriction fragment length polymorphisms. J Clin Chem Clin Biochem (1988) 0.75
Influence of the phenylalanine dose on the aromatic acid excretion in phenylketonuric heterozygotes and controls after oral loading. Eur J Pediatr (1978) 0.75
Assignment of a gene for human quinoid-dihydropteridine reductase (QDPR, EC 1.6.5.1) to chromosome 4. Hum Genet (1979) 0.75
The anonymous probe DR281 (D1S99) identifies a mspl polymorphism. Nucleic Acids Res (1990) 0.75