Three novel mutations, c314C>A, C778insC, and c1285+2T>A, in exon 2 of the Wilson disease gene.
Genschel
J
J
Campus Charité Mitte, Med. Klinik m.S. Gastroenterologie, Hepatologie und Endokrinologie, Schumannstr. 20-21, 10117 Berlin, Germany. janine.genschel@charite.de
Sommer
G
G
Haas
R
R
Buettner
C
C
Bochow
B
B
Manns
M
M
Lochs
H
H
Schmidt
H H
HH
D000328:Adult; D018389:Codon, Nonsense / Q000235:genetics*; D006527:Hepatolenticular Degeneration / Q000235:genetics*; D006801:Humans; D016254:Mutagenesis, Insertional / Q000235:genetics*; D022821:RNA Splice Sites / Q000235:genetics*; D012694:Serine / Q000235:genetics
D018389:Codon, Nonsense; D022821:RNA Splice Sites; D012694:Serine