K5 D328E: A Novel Missense Mutation in the Linker 12 Domain of Keratin 5 Associated with Epidermolysis bullosa simplex (Weber-Cockayne).
- Published in:
- Human Heredity, 2000, v. 50, n. 4, p. 234, doi. 10.1159/000022921
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- Publication type:
- Article
Works matching IS 00015652 AND DT 2000 AND VI 50 AND IP 4
Results: 12
1
2
A Unified Approach to Adjusting Association Tests for Population Admixture with Arbitrary Pedigree Structure and Arbitrary Missing Marker Information.
- Published in:
- Human Heredity, 2000, v. 50, n. 4, p. 211, doi. 10.1159/000022918
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- Publication type:
- Article
3
Molecular Heterogeneity of the Glucose-6-Phosphate Dehydrogenase Deficiency in the Hellenic Population.
- Published in:
- Human Heredity, 2000, v. 50, n. 4, p. 237, doi. 10.1159/000022922
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- Publication type:
- Article
4
Identification of a Prevalent Nonsense Mutation (W283X) and Two Novel Mutations in the Porphobilinogen Deaminase Gene of Swiss Patients with Acute Intermittent Porphyria.
- Published in:
- Human Heredity, 2000, v. 50, n. 4, p. 247, doi. 10.1159/000022924
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- Publication type:
- Article
5
A Novel Mutation (2409delT) in Exon 14 of the Factor VIII Gene Causes Severe Haemophilia A.
- Published in:
- Human Heredity, 2000, v. 50, n. 4, p. 266, doi. 10.1159/000022928
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- Publication type:
- Article
6
Apolipoprotein B 3′-VNTR Polymorphism in the Udmurt Population.
- Published in:
- Human Heredity, 2000, v. 50, n. 4, p. 224, doi. 10.1159/000022919
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- Publication type:
- Article
7
Adjusting for Confounding due to Population Admixture when Estimating the Effect of Candidate Genes on Quantitative Traits.
- Published in:
- Human Heredity, 2000, v. 50, n. 4, p. 227, doi. 10.1159/000022920
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- Publication type:
- Article
8
The 677 C→T Mutation in the Methylenetetrahydrofolate Reductase (MTHFR) Gene in Five Chinese Ethnic Groups.
- Published in:
- Human Heredity, 2000, v. 50, n. 4, p. 268, doi. 10.1159/000022929
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- Publication type:
- Article
9
High Frequency of HLA-DQB1 Non-Asp<sup>57</sup> Alleles in Kuwaiti Children with Insulin-Dependent Diabetes mellitus.
- Published in:
- Human Heredity, 2000, v. 50, n. 4, p. 242, doi. 10.1159/000022923
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- Publication type:
- Article
10
Linkage Analysis of Quantitative Trait Loci: Sib Pairs or Sibships?
- Published in:
- Human Heredity, 2000, v. 50, n. 4, p. 251, doi. 10.1159/000022925
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- Publication type:
- Article
11
Haptoglobin 1F Allele Frequency Is High among Indigenous Populations in the State of Durango, Mexico.
- Published in:
- Human Heredity, 2000, v. 50, n. 4, p. 263, doi. 10.1159/000022927
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- Publication type:
- Article
12
A Study on the Degree of Relationship between Two Individuals.
- Published in:
- Human Heredity, 2000, v. 50, n. 4, p. 257, doi. 10.1159/000022926
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- Publication type:
- Article