A novel SLC37A4 missense mutation in GSD‐Ib without hepatomegaly causes enhanced leukocytes endoplasmic reticulum stress and apoptosis

BACKGROUND: Glycogen storage disease (GSD) type Ib is an autosomal recessive disease caused by defects of glucose‐6‐phosphate transporter (G6PT), encoded by the SLC37A4 gene. To date, over 100 mutations have been revealed in the SLC37A4 gene. GSD‐Ib patients manifest a metabolic phenotype of impaire...

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Detalles Bibliográficos
Autores principales: Xu, Qianyun, Tang, Haiyan, Duan, Liping, Zuo, Xiaoxia, Shi, Xiaoliu, Li, Yisha, Zhao, Hongjun, Zhang, Huali
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7963412/
https://www.ncbi.nlm.nih.gov/pubmed/33280276
http://dx.doi.org/10.1002/mgg3.1568

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7963412/
https://www.ncbi.nlm.nih.gov/pubmed/33280276
http://dx.doi.org/10.1002/mgg3.1568

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