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]
Producer: 20150427Description: 299-307 p. digitalISSN:- 1469-1809
- 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
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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