Characterisation of two deletions involving NPC1 and flanking genes in Niemann-Pick type C disease patients.

Rodríguez-Pascau, Laura; Toma, Claudio; Macías-Vidal, Judit; Cozar, Mónica; Cormand, Bru; Lykopoulou, Lilia; Coll, Maria Josep; Grinberg, Daniel; Vilageliu, Lluïsa.
Mol Genet Metab; 107(4): 716-20, 2012 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-23142039