Early and severe liver disease associated with homozygosity for an exon 7 mutation, G691R, in Wilson's disease.
Barada
K
K
Nemer
G
G
ElHajj
I I
II
Touma
J
J
Cortas
N
N
Boustany
R-M
RM
Usta
J
J
D000251:Adenosine Triphosphatases / Q000235:genetics*; D027682:Cation Transport Proteins / Q000235:genetics*; D000073840:Copper-Transporting ATPases; D005260:Female; D006527:Hepatolenticular Degeneration / Q000235:genetics* / Q000503:physiopathology*; D006720:Homozygote; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010641:Phenotype
D027682:Cation Transport Proteins; D000251:Adenosine Triphosphatases; D000073840:Copper-Transporting ATPases