Article
The Wilson disease gene: spectrum of mutations and their consequences.
Nature genetics - 1 Feb 1995
Thomas G R, Forbes J R, Roberts E A, Walshe J M, Cox D W
Abstract excerpt
We have previously reported the cloning of a gene that encodes a copper transporting P-type ATPase (ATP7B) which is defective in Wilson disease. We have now identified in 58 WND patients, 20 new mutations as well as three of five previously published mutations: 11 small insertions and deletions, seven missense, two nonsense and three splice site mutations. Two of the mutations are relatively frequent,...
Topics
- Adenosine Triphosphatases
- Age of Onset
- Amino Acid Sequence
- Base Sequence
- Cation Transport Proteins
- Copper-Transporting ATPases
- DNA Primers
- Exons
- Female
- Hepatolenticular Degeneration
- Heterozygote