Novel mutations of the ATP7B gene in Han Chinese families with pre-symptomatic Wilson's disease. [electronic resource]
Producer: 20160513Description: 255-60 p. digitalISSN:- 1867-0687
- Adenosine Triphosphatases -- genetics
- Cation Transport Proteins -- genetics
- Child, Preschool
- China
- Cohort Studies
- Copper -- therapeutic use
- Copper-Transporting ATPases
- Female
- Genetic Predisposition to Disease
- Genetic Testing -- methods
- Hepatolenticular Degeneration -- diagnosis
- Humans
- Infant
- Male
- Mutation
- Pedigree
- Polymorphism, Single Nucleotide
- Predictive Value of Tests
- Risk Assessment
- Treatment Outcome
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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