Wilson disease (WND), an autosomal recessive disorder of copper transport, shows wide genotypic and phenotypic variability, with hepatic and/or neurological symptoms. The WND gene, ATP7B, encodes a copper transporting ATPase that is involved in the transport of copper into the plasma protein cerulop
Twenty-Four Novel Mutations in Wilson Disease Patients of Predominantly Italian Origin
β Scribed by Lepori, Maria Barbara; Lovicu, Mario; Dessi, Valentina; Zappu, Antonietta; Incollu, Simona; Zancan, Lucia; Giacchino, Raffaella; Iorio, Raffaele; Vajro, Pietro; Maggiore, Giuseppe; Marcellini, Matilde; Barbera, Cristiana; Pellecchia, Maria Teresa; Simonetti, Rosanna; Kostic, Vladimir; Farci, Anna Maria Giulia; Solinas, Antonello; De Virgiliis, Stefano; Cao, Antonio; Loudianos, Georgios
- Book ID
- 126994064
- Publisher
- Mary Ann Liebert
- Year
- 2007
- Tongue
- English
- Weight
- 74 KB
- Volume
- 11
- Category
- Article
- ISSN
- 1090-6576
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In order to obtain novel mutations in the recently discovered Wilson disease gene, we screened 5 unrelated German individuals for mutations in the 21 exons and their flanking intronic sequences. We detected 9 mutations affecting the Wilson disease gene. Four of those, designated 802-808delTGTAAGT, 2