Determination of pathogenicity novel mutations and their effects on g6pase protein function in Malaysian GSD1a patients / Amirah Assyiqqin Abd Rahman

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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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Bibliographic Details
Main Author:	Amirah Assyiqqin , Abd Rahman
Format:	Thesis
Published:	2019
Subjects:	Q Science (General) QR Microbiology
Online Access:	http://studentsrepo.um.edu.my/12817/ http://studentsrepo.um.edu.my/12817/2/Amirah_Assyiqqin.pdf http://studentsrepo.um.edu.my/12817/1/Amirah_Assyiqqin.pdf

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