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Article

Novel mutations of the ATP7B gene among 109 Hungarian patients with Wilson's disease.

European journal of gastroenterology & hepatology - 1 Feb 2007

Folhoffer Aniko, Ferenci Peter, Csak Timea, Horvath Andrea, Hegedus Dalma, Firneisz Gabor, Osztovits Janos, Kosa Janos Pal, Willheim-Polli Claudia, Szonyi Laszlo, Abonyi Margit, Lakatos Peter Laszlo, Szalay Ferenc

Abstract excerpt

BACKGROUND/AIMS: Diagnosis of Wilson's disease may be difficult in patients presenting with liver disease and in asymptomatic siblings. The aim of the present study was to assess the impact of genetic testing for diagnosis of the disease in a large cohort (n=109) from Hungary. PATIENTS/METHODS: One hundred and nine patients with Wilson's disease were studied (65 men and 44 women; mean age at onset of symptoms:...

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PMID: 17272994
DOI: 10.1097/01.meg.0000223904.70492.0b

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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