Molecular basis of type I (tryrosinase-related) oculocutaneous albinism: Mutations and polymorphisms of the human tyrosinase gene.
- Published in:
- Human Mutation, 1993, v. 2, n. 1, p. 1, doi. 10.1002/humu.1380020102
- By:
- Publication type:
- Article
Works matching IS 10597794 AND DT 1993 AND VI 2 AND IP 1
Results: 15
1
2
A deletion/insertion mutation in the IDUA gene in a Libyan Jewish patient with Hurler syndrome (mucopolysaeeharidosis IH).
- Published in:
- Human Mutation, 1993, v. 2, n. 1, p. 71, doi. 10.1002/humu.1380020113
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- Publication type:
- Article
3
Temperature sensitivity of aberrant RNA splicing with a mutation in theG<sup>+5</sup> position of intron 37 of the gene for type III procollagen from a patient with Ehlers-Danlos syndrome type IV.
- Published in:
- Human Mutation, 1993, v. 2, n. 1, p. 28, doi. 10.1002/humu.1380020106
- By:
- Publication type:
- Article
4
Masthead.
- Published in:
- Human Mutation, 1993, v. 2, n. 1, p. fmi, doi. 10.1002/humu.1380020101
- Publication type:
- Article
5
A rapid and reliable PCR method for genotyping the ABO blood group.
- Published in:
- Human Mutation, 1993, v. 2, n. 1, p. 67, doi. 10.1002/humu.1380020112
- By:
- Publication type:
- Article
6
Homology-mediated recombination between type I collagen gene exons results in an internal tandem duplication and lethal osteogenesis imperfecta.
- Published in:
- Human Mutation, 1993, v. 2, n. 1, p. 21, doi. 10.1002/humu.1380020105
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- Publication type:
- Article
7
Molecular characterization of β-thalassemia in Egyptians.
- Published in:
- Human Mutation, 1993, v. 2, n. 1, p. 48, doi. 10.1002/humu.1380020109
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- Publication type:
- Article
8
Detection of point mutations in the p53 gene: Comparison of single-strand conformation polymorphism, constant denaturant gel electrophoresis, and hydroxylamine and osmium tetroxide techniques.
- Published in:
- Human Mutation, 1993, v. 2, n. 1, p. 58, doi. 10.1002/humu.1380020111
- By:
- Publication type:
- Article
9
Detection of more than 94% cystic fibrosis mutations in a sample of belgian population and identification of four novel mutations.
- Published in:
- Human Mutation, 1993, v. 2, n. 1, p. 16, doi. 10.1002/humu.1380020104
- By:
- Publication type:
- Article
10
G6PD 'campinas:' A deficient enzyme with a mutation at the far 3′ end of the gene.
- Published in:
- Human Mutation, 1993, v. 2, n. 1, p. 77, doi. 10.1002/humu.1380020115
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- Publication type:
- Article
11
Identification of mutations in Danish choroideremia families.
- Published in:
- Human Mutation, 1993, v. 2, n. 1, p. 43, doi. 10.1002/humu.1380020108
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- Publication type:
- Article
12
Deletions with inversions: Report of a mutation and review of the literature.
- Published in:
- Human Mutation, 1993, v. 2, n. 1, p. 53, doi. 10.1002/humu.1380020110
- By:
- Publication type:
- Article
13
Mutation analysis and haplotype correlation for 139 cystic fibrosis patients from the Nebraska Regional Cystic Fibrosis Center.
- Published in:
- Human Mutation, 1993, v. 2, n. 1, p. 7, doi. 10.1002/humu.1380020103
- By:
- Publication type:
- Article
14
A novel mutation in exon 8 of the phenylalanine hydroxylase gene in the Polish population.
- Published in:
- Human Mutation, 1993, v. 2, n. 1, p. 74, doi. 10.1002/humu.1380020114
- By:
- Publication type:
- Article
15
A mutation (met→arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex.
- Published in:
- Human Mutation, 1993, v. 2, n. 1, p. 37, doi. 10.1002/humu.1380020107
- By:
- Publication type:
- Article