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

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...

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Библиографические подробности
Главные авторы: Kucinskas, Laimutis, Jeroch, Jolanta, Vitkauskiene, Astra, Sakalauskas, Raimundas, Petrenkiene, Vitalija, Kucinskas, Vaidutis, Naginiene, Rima, Schmidt, Hartmut, Kupcinskas, Limas
Формат: Artigo
Язык:Inglês
Опубликовано: The WJG Press and Baishideng 2008
Предметы:
Rapid Communication
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC2751898/
https://ncbi.nlm.nih.gov/pubmed/18855987
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3748/wjg.14.5876
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