Mutations in the myelin protein zero gene associated with Charcot-Marie-Tooth disease type 1B.
- Published in:
- Human Mutation, 1995, v. 6, n. 1, p. 50, doi. 10.1002/humu.1380060110
- By:
- Publication type:
- Article
Works matching IS 10597794 AND DT 1995 AND VI 6 AND IP 1
Results: 20
1
2
Where phenotype does not match genotype.
- Published in:
- Human Mutation, 1995, v. 6, n. 1, p. 7, doi. 10.1002/humu.1380060103
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- Publication type:
- Article
3
Using information content and base frequencies to distinguish mutations from genetic polymorphisms in splice junction recognition sites.
- Published in:
- Human Mutation, 1995, v. 6, n. 1, p. 74, doi. 10.1002/humu.1380060114
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- Publication type:
- Article
4
Detection and genetic analysis of β-thalassemia mutations by competitive oligopriming.
- Published in:
- Human Mutation, 1995, v. 6, n. 1, p. 30, doi. 10.1002/humu.1380060107
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- Publication type:
- Article
5
An Alul<sup>−</sup> polymorphism in the HEXA gene is common in Ashkenazi and Sephardic Jews, Israeli Arabs, and French Canadians of Quebec and Northern New England.
- Published in:
- Human Mutation, 1995, v. 6, n. 1, p. 89, doi. 10.1002/humu.1380060118
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- Publication type:
- Article
6
Relatively high prevalence of the CFTR mutations, G85E and 1154insTC.
- Published in:
- Human Mutation, 1995, v. 6, n. 1, p. 95, doi. 10.1002/humu.1380060120
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- Publication type:
- Article
7
Mutations in muscle phosphofructokinase gene.
- Published in:
- Human Mutation, 1995, v. 6, n. 1, p. 1, doi. 10.1002/humu.1380060102
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- Publication type:
- Article
8
Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1.
- Published in:
- Human Mutation, 1995, v. 6, n. 1, p. 66, doi. 10.1002/humu.1380060113
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- Publication type:
- Article
9
Mutation heterogeneity of cystic fibrosis in France: Screening by denaturing gradient gel electrophoresis using psoralen-modified oligonucleotide.
- Published in:
- Human Mutation, 1995, v. 6, n. 1, p. 23, doi. 10.1002/humu.1380060106
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- Publication type:
- Article
10
Identification of a mutation, N543H, in exon 11 of the low-density lipoprotein receptor gene in a French family with familial hypercholesterolemia.
- Published in:
- Human Mutation, 1995, v. 6, n. 1, p. 87, doi. 10.1002/humu.1380060117
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- Publication type:
- Article
11
Masthead.
- Published in:
- Human Mutation, 1995, v. 6, n. 1, p. fmi, doi. 10.1002/humu.1380060101
- Publication type:
- Article
12
Haplotype analysis in gelsoiin-related amyloidosis reveals independent origin of identical mutation (G654A) of gelsolin in Finland and Japan.
- Published in:
- Human Mutation, 1995, v. 6, n. 1, p. 60, doi. 10.1002/humu.1380060112
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- Publication type:
- Article
13
Homozygosity for a null allele of the insulin receptor gene in a patient with leprechaunism.
- Published in:
- Human Mutation, 1995, v. 6, n. 1, p. 17, doi. 10.1002/humu.1380060105
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- Publication type:
- Article
14
Identification of a one-basepair deletion in exon 6 of the dystrophin gene.
- Published in:
- Human Mutation, 1995, v. 6, n. 1, p. 85, doi. 10.1002/humu.1380060116
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- Publication type:
- Article
15
Three novel aniridia mutations in the human PAX6 gene.
- Published in:
- Human Mutation, 1995, v. 6, n. 1, p. 44, doi. 10.1002/humu.1380060109
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- Publication type:
- Article
16
Four novel mutations underlying mild or intermediate forms of α-L-iduronidase deficiency (MPS IS and MPS IH/S).
- Published in:
- Human Mutation, 1995, v. 6, n. 1, p. 55, doi. 10.1002/humu.1380060111
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- Publication type:
- Article
17
Identification of five novel inactivating mutations in the human thyroid peroxidase gene by denaturing gradient gel electrophoresis.
- Published in:
- Human Mutation, 1995, v. 6, n. 1, p. 9, doi. 10.1002/humu.1380060104
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- Publication type:
- Article
18
Detection of sequence variants in the gene encoding the β3 chain of laminin 5 (LAMB3).
- Published in:
- Human Mutation, 1995, v. 6, n. 1, p. 77, doi. 10.1002/humu.1380060115
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- Publication type:
- Article
19
Molecular characterization of galactosemia (Type 1)mutations in Japanese.
- Published in:
- Human Mutation, 1995, v. 6, n. 1, p. 36, doi. 10.1002/humu.1380060108
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- Publication type:
- Article
20
Mucopolysaccharidosis type I: Identification of 13 novel mutations of the α-L-iduronidase gene.
- Published in:
- Human Mutation, 1995, v. 6, n. 1, p. 91, doi. 10.1002/humu.1380060119
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- Publication type:
- Article