title: Three novel mutations, c314C>A, C778insC, and c1285+2T>A, in exon 2 of the Wilson disease gene.
authors.affiliation: Campus Charité Mitte, Med. Klinik m.S. Gastroenterologie, Hepatologie und Endokrinologie, Schumannstr. 20-21, 10117 Berlin, Germany. janine.genschel@charite.de
authors.forename: J
authors.initials: J
authors.lastname: Genschel
authors.forename: G
authors.initials: G
authors.lastname: Sommer
authors.forename: R
authors.initials: R
authors.lastname: Haas
authors.forename: C
authors.initials: C
authors.lastname: Buettner
authors.forename: B
authors.initials: B
authors.lastname: Bochow
authors.forename: M
authors.initials: M
authors.lastname: Manns
authors.forename: H
authors.initials: H
authors.lastname: Lochs
authors.forename: H H
authors.initials: HH
authors.lastname: Schmidt
mesh_terms: 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
chemical_list: D018389:Codon, Nonsense; D022821:RNA Splice Sites; D012694:Serine