Determination of variants in the 3′-region of the Tyrosinase gene requires locus specific amplification.
- Published in:
- Human Mutation, 2005, v. 26, n. 1, p. 53, doi. 10.1002/humu.20171
- By:
- Publication type:
- Article
Works matching IS 10597794 AND DT 2005 AND VI 26 AND IP 1
Results: 13
1
2
Mutation analysis of the GJB2 (Connexin 26) gene in Egypt.
- Published in:
- Human Mutation, 2005, v. 26, n. 1, p. 60, doi. 10.1002/humu.9350
- By:
- Publication type:
- Article
3
The phenotypic spectrum of COL2A1 mutations.
- Published in:
- Human Mutation, 2005, v. 26, n. 1, p. 36, doi. 10.1002/humu.20179
- By:
- Publication type:
- Article
4
Sarcoglycanopathies and the risk of undetected deletion alleles in diagnosis.
- Published in:
- Human Mutation, 2005, v. 26, n. 1, p. 59, doi. 10.1002/humu.9347
- By:
- Publication type:
- Article
5
Sjögren-Larsson syndrome: Diversity of mutations and polymorphisms in the fatty aldehyde dehydrogenase gene ( ALDH3A2).
- Published in:
- 2005
- By:
- Publication type:
- Other
6
Erratum: Sodium channel gene ( SCN5A) mutations in 44 index patients with brugada syndrome: Different incidences in familial and sporadic disease.
- Published in:
- Human Mutation, 2005, v. 26, n. 1, p. 61, doi. 10.1002/humu.9351
- By:
- Publication type:
- Article
7
Identification of nine novel DHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS).
- Published in:
- Human Mutation, 2005, v. 26, n. 1, p. 59, doi. 10.1002/humu.9346
- By:
- Publication type:
- Article
8
Niemann-Pick type C disease: Subcellular location and functional characterization of NPC2 proteins with naturally occurring missense mutations.
- Published in:
- Human Mutation, 2005, v. 26, n. 1, p. 20, doi. 10.1002/humu.20173
- By:
- Publication type:
- Article
9
InSNP: A tool for automated detection and visualization of SNPs and InDels.
- Published in:
- Human Mutation, 2005, v. 26, n. 1, p. 11, doi. 10.1002/humu.20188
- By:
- Publication type:
- Article
10
Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome.
- Published in:
- Human Mutation, 2005, v. 26, n. 1, p. 60, doi. 10.1002/humu.9349
- By:
- Publication type:
- Article
11
Alteration of DNA binding, dimerization, and nuclear translocation of SHOX homeodomain mutations identified in idiopathic short stature and Leri-Weill dyschondrosteosis.
- Published in:
- Human Mutation, 2005, v. 26, n. 1, p. 44, doi. 10.1002/humu.20187
- By:
- Publication type:
- Article
12
TNF polymorphisms in Alzheimer disease and functional implications on CSF beta-amyloid levels.
- Published in:
- Human Mutation, 2005, v. 26, n. 1, p. 29, doi. 10.1002/humu.20180
- By:
- Publication type:
- Article
13
Novel mutations in type 2 Gaucher disease in Chinese and their functional characterization by heterologous expression.
- Published in:
- Human Mutation, 2005, v. 26, n. 1, p. 59, doi. 10.1002/humu.9348
- By:
- Publication type:
- Article