A prevalent pathogenic GAMT mutation (c.59G>C) in Portugal

Autor: Almeida, L.S., Vilarinho, L., Darmin, P.S., Rosenberg, E.H., Martinez-Muñoz, C., Jakobs, C., Salomons, G.S.
Zdroj: In Molecular Genetics and Metabolism 2007 91(1):1-6
Databáze: ScienceDirect