title: Wilson disease mutations associated with uncommon haplotypes in Mediterranean patients.
abstract: This study reports 12 novel mutations of the Wilson disease (WD) gene which have been detected by the molecular analysis of 29 patients of Mediterranean descent carrying uncommon chromosomal haplotypes at the WD locus. These mutations include two nonsense, one splice site and nine missense. The missense mutations lie in regions of the WD gene critical for its function, such as the transmembrane region, the transduction domain and the ATP loop and ATP-binding domain, indicating that they are disease-causing mutations. These new findings improve our knowledge for the role played by functional domains on the ATP7B function.
authors.affiliation: Ospedale Regionale per le Microcitemie, Azienda-USL 8, Cagliari, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Loudianos
authors.forename: V
authors.initials: V
authors.lastname: Dessì
authors.forename: A
authors.initials: A
authors.lastname: Angius
authors.forename: M
authors.initials: M
authors.lastname: Lovicu
authors.forename: A
authors.initials: A
authors.lastname: Loi
authors.forename: M
authors.initials: M
authors.lastname: Deiana
authors.forename: N
authors.initials: N
authors.lastname: Akar
authors.forename: P
authors.initials: P
authors.lastname: Vajro
authors.forename: A
authors.initials: A
authors.lastname: Figus
authors.forename: A
authors.initials: A
authors.lastname: Cao
authors.forename: M
authors.initials: M
authors.lastname: Pirastu
mesh_terms: D000415:Albania / Q000208:ethnology; D004252:DNA Mutational Analysis; D006238:Haploidy; D006527:Hepatolenticular Degeneration / Q000235:genetics*; D006801:Humans; D007558:Italy / Q000208:ethnology; D019083:Mediterranean Region; D016296:Mutagenesis; D014421:Turkey / Q000208:ethnology