Article
Ancestral origins of the prion protein gene D178N mutation in the Basque Country.
Human genetics - 1 Jun 2005
Rodríguez-Martínez Ana B, Barreau Christian, Coupry Isabelle, Yagüe Jordi, Sánchez-Valle Raquel, Galdós-Alcelay Luis, Ibáñez Agustín, Digón Antón, Fernández-Manchola Ignacio, Goizet Cyril, Castro Azucena, Cuevas Nerea, Alvarez-Alvarez Maite, de Pancorbo Marian M, Arveiler Benoît, Zarranz Juan J
Abstract excerpt
Fatal familial insomnia (FFI) and familial Creutzfeldt-Jakob disease (fCJD) are familial prion diseases with autosomal dominant inheritance of the D178N mutation. FFI has been reported in at least 27 pedigrees around the world. Twelve apparently unrelated FFI and fCJD pedigrees with the characteristic D178N mutation have been reported in the Prion Diseases Registry of the Basque Country since 1993. The high...
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