CareLit · DOI-Nachweis · Zeitschrift für Gastroenterologie
Genetic and clinical characteristics of Wilson disease in patients from Hungary
DOI 10.1055/s-2008-1079624
Bibliografische Angaben
Nachweis in CareLit
Autor:innenA 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
ZeitschriftZeitschrift für Gastroenterologie
Ausgabe05/2008
Jahrgang / SeitenNicht angegeben
Kernaussage aus der Literatur
Abstract-Vorschau
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…
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Zitierempfehlung
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 (2008) Genetic and clinical characteristics of Wilson disease in patients from Hungary. Zeitschrift für Gastroenterologie (05). https://doi.org/10.1055/s-2008-1079624
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