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