Genetic and clinical characteristics of Wilson disease in patients from Hungary
A Folhoffer, P Ferenci, T Csák, A Horváth, D Hegedûs, G Firneisz, J Osztovits, Z Visnyei, J Kósa, C Wilheim-Polli, L Szőnyi, M Abonyi, P Lakatos, F Szalay · Zeitschrift für Gastroenterologie · 2008 · Heft 05
Bibliografische Angaben
Zusammenfassung
Background/aims: The number of known mutations within the ATP7B exceeds the 350 according to the recent data of Wilson disease (WD) mutation of the Human Genom database, among them H1069Q point mutation is the most frequent one. Diagnosis of Wilson 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 WD in a large cohort from Hungary. Patients/Methods: 142 WD patients were studied (m/f=81/61, mean age at onset of symptoms: 19±9 years). Diagnosis of WD was based on typical clinical…
