Article
Molecular genetic analysis and phenotypic characteristics of a consanguineous family with glycogen storage disease type Ia.
Molecular medicine reports - 1 Oct 2016
Lu Yili, Wang Liyin, Li Jun, Wu Beibei, Wu Huiping, Luo Yue, Jin Zi-Bing, Shan Xiaoou
Abstract excerpt
Glycogen storage disease type‑Ia (GSD‑Ia) is a rare autosomal recessive disease caused by a mutation in the gene encoding glucose‑6‑phosphate‑α (G6PC). The present study reported the case of a 3‑month‑old female Chinese patient with GSD‑Ia born to consanguineous parents. The aim of the present study was to identify the precise mutation of the G6PC gene associated with this family and to describe the phenotypic...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.