Three novel mutations (P760L, L1305P, Q1351Stop) causing Wilson disease.
Genschel
J
J
Campus Charité Mitte, Med. Klinik m.S. Gastroenterologie, Hepatologie und Endokrinologie, Berlin, Germany.
Czlonkowska
A
A
Sommer
G
G
Buettner
C
C
Bochow
B
B
Lochs
H
H
Schmidt
H
H
D000251:Adenosine Triphosphatases / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics*; D027682:Cation Transport Proteins; D018389:Codon, Nonsense; D000073840:Copper-Transporting ATPases; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D006527:Hepatolenticular Degeneration / Q000235:genetics*; D006801:Humans; D009154:Mutation; D020125:Mutation, Missense
D002352:Carrier Proteins; D027682:Cation Transport Proteins; D018389:Codon, Nonsense; D004247:DNA; D000251:Adenosine Triphosphatases; D000073840:Copper-Transporting ATPases