CareLit · DOI-Nachweis · Zeitschrift für Gastroenterologie
Identification of a novel mutation in Wilson disease patients from upper-Austria: A genetic and clinical study
DOI 10.1055/s-2008-1081516
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Autor:innenH Hofer, C Willheim-Polli, F Hackl, P Knoflach, C Gabriel, P Ferenci
ZeitschriftZeitschrift für Gastroenterologie
Ausgabe06/2008
Jahrgang / SeitenNicht angegeben
Kernaussage aus der Literatur
Abstract-Vorschau
Background and Aim: Wilson disease (WD), an autosomal recessive disorder of copper metabolism is caused by mutations in the ATP7B gene, a copper transporting ATPase. More than 200 mutations were reported so far, most of them occurring in single families. In the present study we describe 11 patients with a novel mutation in exon 9 of the ATP7B gene. Ten of them originating from the federal state of Upper-Austria with…
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Zitierempfehlung
H Hofer, C Willheim-Polli, F Hackl, P Knoflach, C Gabriel, P Ferenci (2008) Identification of a novel mutation in Wilson disease patients from upper-Austria: A genetic and clinical study. Zeitschrift für Gastroenterologie (06). https://doi.org/10.1055/s-2008-1081516
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