Okada, T

Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease. [electronic resource] - Human mutation 2000 - 454-62 p. digital

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

1059-7794

10.1002/(SICI)1098-1004(200005)15:5<454::AID-HUMU7>3.0.CO;2-J doi


Adenosine Triphosphatases--genetics
Amino Acid Substitution
Asian People
Carrier Proteins--genetics
Cation Transport Proteins
Ceruloplasmin--analysis
Copper--blood
Copper-Transporting ATPases
DNA Mutational Analysis
DNA Transposable Elements
Female
Frameshift Mutation
Genotype
Geography
Hepatolenticular Degeneration--blood
Humans
Japan
Male
Mutation
Mutation, Missense
Pedigree
Phenotype
Polymerase Chain Reaction
Polymorphism, Single-Stranded Conformational
Sequence Deletion