Mucolipidosis IV: Report of a Case with Ocular Restricted Phenotype Caused by Leaky Splice Mutation

Autor: Dobrovolny, Robert, Liskova, Petra, Ledvinova, Jana, Poupetova, Helena, Asfaw, Befekadu, Filipec, Martin, Jirsova, Katerina, Kraus, Josef, Elleder, Milan
Zdroj: In American Journal of Ophthalmology 2007 143(4):663-671
Databáze: ScienceDirect