Works matching IS 10597794 AND DT 1995 AND VI 5 AND IP 4
Results: 18
Screening for mutations in factor VIII gene using the single-strand conformation polymorphism.
- Published in:
- Human Mutation, 1995, v. 5, n. 4, p. 357, doi. 10.1002/humu.1380050418
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- Article
Molecular basis of dihydropteridine reductase deficiency.
- Published in:
- Human Mutation, 1995, v. 5, n. 4, p. 279, doi. 10.1002/humu.1380050402
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- Article
Identification of a new missense mutation in exon 2 of the human hypoxanthine phosphoribosyltransferase gene (HPRT<sub>Isar</sub>): A further example of clinical heterogeneity in HPRT deficiencies.
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- Human Mutation, 1995, v. 5, n. 4, p. 341, doi. 10.1002/humu.1380050413
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- Article
Gaucher disease in Spanish patients: Analysis of eight mutations.
- Published in:
- Human Mutation, 1995, v. 5, n. 4, p. 303, doi. 10.1002/humu.1380050406
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- Article
Carbonic anhydrase II deficiency in a Japanese patient produced by a nonsense mutation (TAT →TAG) at Tyr-40 in exon 2, (Y40X).
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- Human Mutation, 1995, v. 5, n. 4, p. 348, doi. 10.1002/humu.1380050415
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- Article
Identification of a novel mutation causing aspartylglucosaminuria reveals a mutation hotspot region in the aspartylglucosaminidase gene.
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- Human Mutation, 1995, v. 5, n. 4, p. 318, doi. 10.1002/humu.1380050408
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- Article
Somatic mutations in VNTR-Locus D1S7 in human colorectal carcinomas are associated with microsatellite instability.
- Published in:
- Human Mutation, 1995, v. 5, n. 4, p. 329, doi. 10.1002/humu.1380050410
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- Article
Mutations in the Norrie disease gene.
- Published in:
- Human Mutation, 1995, v. 5, n. 4, p. 285, doi. 10.1002/humu.1380050403
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- Article
African, Native American, and European mitochondrial DNAs in Cubans from Pinar del Rio Province and implications for the recent epidemic neuropathy in Cuba.
- Published in:
- Human Mutation, 1995, v. 5, n. 4, p. 310, doi. 10.1002/humu.1380050407
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- Article
Identification of a new mutation (P178S) in an African-American patient with type 2 Gaucher disease.
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- Human Mutation, 1995, v. 5, n. 4, p. 345, doi. 10.1002/humu.1380050414
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- Article
A 13-bp deletion (1952 del 13) in the methylmalonyl CoA mutase gene of an affected patient.
- Published in:
- Human Mutation, 1995, v. 5, n. 4, p. 354, doi. 10.1002/humu.1380050417
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- Article
Masthead.
- Published in:
- Human Mutation, 1995, v. 5, n. 4, p. fmi, doi. 10.1002/humu.1380050401
- Publication type:
- Article
Protein 4.1 Lille, a novel mutation in the downstream initiation codon of protein 4.1 gene associated with heterozygous 4,1(−) hereditary elliptocytosis.
- Published in:
- Human Mutation, 1995, v. 5, n. 4, p. 339, doi. 10.1002/humu.1380050412
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- Article
Characterization of germline mutations of the gene encoding Bruton's tyrosine kinase in families with X-linked agammaglobulinemia.
- Published in:
- Human Mutation, 1995, v. 5, n. 4, p. 296, doi. 10.1002/humu.1380050405
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- Article
Spectrum of β-thalassemia mutations in the Gaza area.
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- Human Mutation, 1995, v. 5, n. 4, p. 351, doi. 10.1002/humu.1380050416
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- Article
Analysis of β-thalassemia mutations in the United Arab Emirates provides evidence for recurrent origin of the IVSINT 5 (G-C) mutation.
- Published in:
- Human Mutation, 1995, v. 5, n. 4, p. 327, doi. 10.1002/humu.1380050409
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- Article
A 31-mutation assay for cystic fibrosis testing in the clinical molecular diagnostics laboratory.
- Published in:
- Human Mutation, 1995, v. 5, n. 4, p. 333, doi. 10.1002/humu.1380050411
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- Publication type:
- Article
Mutations and polymorphisms in the human ornithine transcarbamylase gene: Mutation update addendum.
- Published in:
- Human Mutation, 1995, v. 5, n. 4, p. 293, doi. 10.1002/humu.1380050404
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- Article