Maple Syrup Urine Disease in Cypriot Families: Identification of Three Novel Mutations and Biochemical Characterization of the p.Thr211Met Mutation in the E1α Subunit
Georgiou, Theodoros, Chuang, Jacinta L., Wynn, R. Max, Stylianidou, Goula, Korson, Mark, Chuang, David T., Drousiotou, AnthiVolume:
13
Language:
english
Journal:
Genetic Testing and Molecular Biomarkers
DOI:
10.1089/gtmb.2009.0065
Date:
October, 2009
File:
PDF, 214 KB
english, 2009