|Titolo:||Resolved Psychosis after Liver Transplantation in a Patient with Wilson's Disease|
|Data di pubblicazione:||2011|
|Citazione:||Resolved Psychosis after Liver Transplantation in a Patient with Wilson's Disease / Sorbello O; Riccio D; Sini M; Carta M; Demelia L. - 7(2011), pp. 182-184.|
|Abstract:||Wilson's disease (WD), an autosomal recessive disorder of copper transport with a broad range of genotypic and phenotypic characteristics, results from mutations in the ATP7B gene. Herein we report the results of mutation analysis of the ATP7B gene in a group of 118 Wilson disease families (236 chromosomes) prevalently of Italian origin. Using DNA sequencing we identified 83 disease-causing mutations. Eleven were novel, while twenty one already described mutations were identified in new populations in this study. In particular, mutation analysis of 13 families of Romanian origin showed a high prevalence of the p.H1069Q mutation (50%). Detection of new mutations in the ATP7B gene in new populations increases our capability of molecular analysis that is essential for early diagnosis and treatment of WD.|
|Tipologia:||1.1 Articolo in rivista|
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