Works matching IS 10597794 AND DT 1995 AND VI 5 AND IP 1
Results: 17
Déjérine-Sottas neuropathy is associated with a de novo PMP22 mutation.
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- Human Mutation, 1995, v. 5, n. 1, p. 76, doi. 10.1002/humu.1380050110
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Analysis of linkage disequilibrium between different cystic fibrosis mutations and three intragenic microsatellites in the Italian population.
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- Human Mutation, 1995, v. 5, n. 1, p. 23, doi. 10.1002/humu.1380050103
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Mutations of the iduronate-2-sulfatase gene in 12 Polish. Patients with mucopolysaccharidosis type II (Hunter syndrome).
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- Human Mutation, 1995, v. 5, n. 1, p. 97, doi. 10.1002/humu.1380050114
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Apolipoprotein A-IV polymorphism in the Hungarian population: Gene frequencies, effect on lipid levels, and sequence of two new variants.
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- Human Mutation, 1995, v. 5, n. 1, p. 58, doi. 10.1002/humu.1380050108
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Methods for rapid detection of a recurrent nonsense mutation and documentation of phenotypic features in neurofibromatosis type 1 patients.
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- Human Mutation, 1995, v. 5, n. 1, p. 81, doi. 10.1002/humu.1380050111
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- Article
Leu-676-Pro mutation of the androgen receptor causes complete androgen insensitivity syndrome in a large Hutterite kindred.
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- Human Mutation, 1995, v. 5, n. 1, p. 28, doi. 10.1002/humu.1380050104
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A splicing mutation (1898 + 1G→T) in the CFTR gene causing cystic fibrosis.
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- Human Mutation, 1995, v. 5, n. 1, p. 101, doi. 10.1002/humu.1380050115
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Somatic spectrum of cancer-associated single basepair substitutions in the TP53 gene is determined mainly by endogenous mechanisms of mutation and by selection.
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- Human Mutation, 1995, v. 5, n. 1, p. 48, doi. 10.1002/humu.1380050107
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Molecular etiology of factor VIII deficiency in hemophilia A.
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- Human Mutation, 1995, v. 5, n. 1, p. 1, doi. 10.1002/humu.1380050102
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- Article
Mitochondrial acetoacetyl-coenzyme a thiolase gene: A Novel 68-bp deletion involving 3′ splice site of intron 7, causing exon 8 skipping in a caucasian patient with β-ketothiolase deficiency.
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- Human Mutation, 1995, v. 5, n. 1, p. 94, doi. 10.1002/humu.1380050113
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Identification of six mutations (R31L, 441delA, 681delC, 1461ins4, W1089R, E1104X) in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
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- Human Mutation, 1995, v. 5, n. 1, p. 43, doi. 10.1002/humu.1380050106
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Rapid nonradioactive assay for the detection of the common French Canadian tyrosinemia type I mutation.
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- Human Mutation, 1995, v. 5, n. 1, p. 105, doi. 10.1002/humu.1380050117
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Masthead.
- Published in:
- Human Mutation, 1995, v. 5, n. 1, p. fmi, doi. 10.1002/humu.1380050101
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- Article
Deletion detection in the dystrophin gene by multiplex gap ligase chain reaction and immunochromatographic strip technology.
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- Human Mutation, 1995, v. 5, n. 1, p. 86, doi. 10.1002/humu.1380050112
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Molecular, biochemical, and clinical characterization of mitochondrial acetoacetyl-coenzyme A thiolase deficiency in two further patients.
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- Human Mutation, 1995, v. 5, n. 1, p. 34, doi. 10.1002/humu.1380050105
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Absence of mutations in the apolipoprotein E (APOE) gene of patients with Alzheimer disease.
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- Human Mutation, 1995, v. 5, n. 1, p. 103, doi. 10.1002/humu.1380050116
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- Article
Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: Correlations with phenotype.
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- Human Mutation, 1995, v. 5, n. 1, p. 66, doi. 10.1002/humu.1380050109
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- Article