[16.] Thomas GR, Forbes JR, Roberts EA, Walshe JM, Cox DW (1995) The Wilson disease gene
: spectrum of mutations and their consequences.
Characterization of the Wilson disease gene
encoding a P-type copper transporting ATPase: Genomic organization, alternative splicing, and structure/function predictions.
Consequences of copper accumulation in the livers of the ATP7b-/- (Wilson disease gene
) knockout mice.
High prevalence of the very rare Wilson disease gene mutation Leu708Pro in the Island of Gran Canaria (Canary Islands, Spain): a genetic and clinical study.
Identification and analysis of mutations of the Wilson disease gene in Chinese population.
Spectrum of mutations in the Wilson disease gene
(ATP7B) in the Bulgarian population.
Mapping, cloning and genetic characterization of the region containing the Wilson disease gene. Nat Genet 1993;5:338-43.
Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses.
The Wilson disease gene
is a copper transporting ATPase with homology to the Menkes disease gene.
There is also a chapter on PINA, a splice variant of the Wilson disease gene
, which is present in the pineal gland and is regulated by circadian rhythms.
At least 25 different mutations in the Wilson disease gene
have been described, including small insertions, deletions, missense, nonsense, and splice-site mutations .