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.
Aggarwal, Annu
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
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