Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease.

Kim, E K

Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease. [electronic resource] - Human mutation 1998 - 275-8 p. digital

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

1059-7794

10.1002/(SICI)1098-1004(1998)11:4<275::AID-HUMU4>3.0.CO;2-L doi


Adenosine Triphosphatases--genetics
Alleles
Base Sequence
Carrier Proteins--genetics
Case-Control Studies
Cation Transport Proteins
Copper-Transporting ATPases
DNA Primers--genetics
Gene Frequency
Hepatolenticular Degeneration--enzymology
Humans
Korea
Mutation
Point Mutation
Polymerase Chain Reaction
Polymorphism, Single-Stranded Conformational
Sequence Deletion