Li, Xin-Hua

Clinical and molecular characterization of Wilson's disease in China: identification of 14 novel mutations. [electronic resource] - BMC medical genetics Jan 2011 - 6 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1471-2350

10.1186/1471-2350-12-6 doi


Adenosine Triphosphatases--genetics
Adolescent
Adult
Alanine Transaminase--analysis
Asian People--genetics
Base Sequence
Cation Transport Proteins--genetics
Ceruloplasmin--analysis
Child
Child, Preschool
Copper--urine
Copper-Transporting ATPases
Exons
Female
Genetic Testing
Hepatolenticular Degeneration--diagnosis
Homozygote
Humans
Male
Middle Aged
Molecular Sequence Data
Mutation
Promoter Regions, Genetic
Young Adult