Wilson disease mutation pattern with genotype-phenotype correlations from Western India: confirmation of p.C271* as a common Indian mutation and identification of 14 novel mutations. [electronic resource]
- Annals of human genetics Jul 2013
- 299-307 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1469-1809
10.1111/ahg.12024 doi
Adenosine Triphosphatases--genetics Adolescent Age of Onset Alleles Cation Transport Proteins--genetics Child Child, Preschool Copper-Transporting ATPases Exons Female Gene Frequency Genetic Association Studies Genotype Geography, Medical Hepatolenticular Degeneration--diagnosis Humans India Introns Male Mutation Polymorphism, Single Nucleotide White People--genetics