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...
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| Format: | Thèse |
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2019
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