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Molecular Analysis of Glycogen Storage Disease Type Ib in Sardinian Population: Evidence for a Founder Effect

✍ Scribed by Zappu, Antonietta; Lilliu, Franco; Podda, Rosa Anna; Loudianos, Georgios


Book ID
126275383
Publisher
Mary Ann Liebert
Year
2010
Tongue
English
Weight
672 KB
Volume
14
Category
Article
ISSN
1945-0265

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Molecular characterization of Wilson dis
✍ Georgios Loudianos; Valeria Dessi; Mario Lovicu; Andrea Angius; Annalena Figus; πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 409 KB πŸ‘ 1 views

Wilson disease (WD) in the Sardinian population has an approximate incidence of 1:7,000 live births. Mutation analysis of the WD gene in this population reported in our previous articles led us to the characterization of two common mutations and a group of 13 rare mutations accounting for the molecu