Glycogen storage disease type Ia in Argentina: two novel glucose-6-phosphatase mutations affecting protein stability

Autor: Angaroni, Celia J., de Kremer, Raquel Dodelson, Argaraña, Carlos E., Paschini-Capra, Ana E., Giner-Ayala, Alicia N., Pezza, Roberto J., Pan, Chi-Jiunn, Chou, Janice Y.
Zdroj: In Molecular Genetics and Metabolism 2004 83(3):276-279
Databáze: ScienceDirect