Prodotti della ricerca

 
Titolo: Resolved Psychosis after Liver Transplantation in a Patient with Wilson's Disease
Autori: 
Data di pubblicazione: 2011
Rivista: 
CLINICAL PRACTICE AND EPIDEMIOLOGY IN MENTAL HEALTH  
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.
Handle: http://hdl.handle.net/11584/100326
Tipologia:1.1 Articolo in rivista

File in questo prodotto:
Non ci sono file associati a questo prodotto.
credits unica.it | accessibilità Università degli Studi di Cagliari
C.F.: 80019600925 - P.I.: 00443370929
note legali | privacy

Nascondi la toolbar