Determination of pathogenicity novel mutations and their effects on g6pase protein function in Malaysian GSD1a patients / Amirah Assyiqqin Abd Rahman
Mutation in the glucose-6-phosphate catalytic subunit (G6PC) gene causes Glycogen Storage Disease (GSD) type Ia – a disease associated with glycogen metabolism deficiency. This condition is majorly characterized by hepatomegaly (enlargement of the liver), hepatosplenomegaly (enlargement of the splee...
| المؤلف الرئيسي: | |
|---|---|
| التنسيق: | أطروحة |
| منشور في: |
2019
|
| الموضوعات: |