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Article

High frequency of the c.3207C>A (p.H1069Q) mutation in ATP7B gene of Lithuanian patients with hepatic presentation of Wilson's disease.

World journal of gastroenterology - 14 Oct 2008

Kucinskas Laimutis, Jeroch Jolanta, Vitkauskiene Astra, Sakalauskas Raimundas, Petrenkiene Vitalija, Kucinskas Vaidutis, Naginiene Rima, Schmidt Hartmut, Kupcinskas Limas

Abstract excerpt

AIM: To investigate the prevalence of the ATP7B gene mutation in patients with hepatic presentation of Wilson's disease (WD) in Lithuania. METHODS: Eleven unrelated Lithuanian families, including 13 WD patients were tested. Clinically WD diagnosis was established in accordance to the Leipzig scoring system. Genomic DNA was extracted from whole venous blood using a salt precipitation method. Firstly, the...

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PMID: 18855987
DOI: 10.3748/wjg.14.5876
PMCID: PMC2751898

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