Characterisation of two deletions involving NPC1 and flanking genes in Niemann–Pick Type C disease patients

Autor: Rodríguez-Pascau, Laura, Toma, Claudio, Macías-Vidal, Judit, Cozar, Mónica, Cormand, Bru, Lykopoulou, Lilia, Coll, Maria Josep, Grinberg, Daniel, Vilageliu, Lluïsa
Zdroj: In Molecular Genetics and Metabolism December 2012 107(4):716-720
Databáze: ScienceDirect