Analysis of novel and recurrent mutations responsible for the tricho-rhino-phalangeal syndromes.
- Published in:
- Journal of Human Genetics, 2002, v. 47, n. 3, p. 103, doi. 10.1007/s100380200010
- By:
- Publication type:
- Article
Works matching IS 14345161 AND DT 2002 AND VI 47 AND IP 3
Results: 7
1
2
Impaired interactions between mouse Eya1 harboring mutations found in patients with branchio-oto-renal syndrome and Six, Dach, and G proteins.
- Published in:
- Journal of Human Genetics, 2002, v. 47, n. 3, p. 107, doi. 10.1007/s100380200011
- By:
- Publication type:
- Article
3
Anthropological implication of the SDF1-3′A allele distribution in Southeast Asia and Melanesia.
- Published in:
- Journal of Human Genetics, 2002, v. 47, n. 3, p. 117, doi. 10.1007/s100380200012
- By:
- Publication type:
- Article
4
Evidence for the de novo regeneration of the pattern of the length heteroplasmy associated with the T16189C variant in the control (D-loop) region of mitochondrial DNA.
- Published in:
- Journal of Human Genetics, 2002, v. 47, n. 3, p. 122, doi. 10.1007/s100380200013
- By:
- Publication type:
- Article
5
Association analysis of nine missense polymorphisms in the coagulation factor V gene with severe preeclampsia in pregnant Japanese women.
- Published in:
- Journal of Human Genetics, 2002, v. 47, n. 3, p. 131, doi. 10.1007/s100380200014
- By:
- Publication type:
- Article
6
A novel gene is disrupted at a 14q13 breakpoint of t(2;14) in a patient with mirror-image polydactyly of hands and feet.
- Published in:
- Journal of Human Genetics, 2002, v. 47, n. 3, p. 136, doi. 10.1007/s100380200015
- By:
- Publication type:
- Article
7
Ethnic divergence and linkage disequilibrium of novel SNPs in the human NLI-IF gene: evidence of human origin and lack of association with tuberculosis susceptibility.
- Published in:
- Journal of Human Genetics, 2002, v. 47, n. 3, p. 140, doi. 10.1007/s100380200016
- By:
- Publication type:
- Article