Three novel mutations of the G6PC gene identified in Chinese patients with glycogen storage disease type Ia

Glycogen storage disease type Ia (GSDIa) is an autosomal recessively inherited disease characterized by poor tolerance to fasting, growth retardation, and hepatomegaly resulting from accumulation of glycogen and fat in the liver. Germline mutations of glucose-6-phosphatase (G6PC) gene have been iden...

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Detalles Bibliográficos
Autores principales: Zheng, Bi-Xia, Lin, Qian, Li, Mei, Jin, Yu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2014
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4289013/
https://www.ncbi.nlm.nih.gov/pubmed/24980439
http://dx.doi.org/10.1007/s00431-014-2354-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4289013/
https://www.ncbi.nlm.nih.gov/pubmed/24980439
http://dx.doi.org/10.1007/s00431-014-2354-y

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