Monilethrix: Mutational Hotspot in the Helix Termination Motif of the Human Hair Basic Keratin 6.
- Published in:
- Human Heredity, 2000, v. 50, n. 5, p. 325, doi. 10.1159/000022937
- By:
- Publication type:
- Article
Works matching IS 00015652 AND DT 2000 AND VI 50 AND IP 5
Results: 8
1
2
Prevalence of CCR5 and CCR2 HIV-Coreceptor Gene Polymorphisms in Belgium.
- Published in:
- Human Heredity, 2000, v. 50, n. 5, p. 304, doi. 10.1159/000022932
- By:
- Publication type:
- Article
3
Gene-Environment Interaction and the Mapping of Complex Traits: Some Statistical Models and Their Implications.
- Published in:
- Human Heredity, 2000, v. 50, n. 5, p. 286, doi. 10.1159/000022931
- By:
- Publication type:
- Article
4
Two Novel Missense Mutations (R766M and R792G) in Exon 13 of the CFTR Gene in a Patient with Congenital Bilateral Absence of the Vas deferens.
- Published in:
- Human Heredity, 2000, v. 50, n. 5, p. 318, doi. 10.1159/000022934
- By:
- Publication type:
- Article
5
Gene-Environment Interactions and the Affected-Sib-Pair Designs.
- Published in:
- Human Heredity, 2000, v. 50, n. 5, p. 271, doi. 10.1159/000022930
- By:
- Publication type:
- Article
6
Estimation of Transmission Probabilities in Families Ascertained through a Proband with Variable Age-at-Onset Disease: Application to the HLA A, B and DR Loci in Finnish Families with Type 1 Diabetes.
- Published in:
- Human Heredity, 2000, v. 50, n. 5, p. 308, doi. 10.1159/000022933
- By:
- Publication type:
- Article
7
Characterization of the New Alpha-1-Antitrypsin-Deficient PI M-Type Allele, PI M<sub>vall d'hebron</sub> (Pro<sup>369</sup>→Ser).
- Published in:
- Human Heredity, 2000, v. 50, n. 5, p. 320, doi. 10.1159/000022935
- By:
- Publication type:
- Article
8
A Novel Missense Mutation, A118E, in the Helix Initiation Motif of the Type II Hair Cortex Keratin hHb6, Causing Monilethrix.
- Published in:
- Human Heredity, 2000, v. 50, n. 5, p. 322, doi. 10.1159/000022936
- By:
- Publication type:
- Article