Identification and characterization of a new variation in DPM2 gene in two Chinese siblings with mild intellectual impairment

Introduction: Congenital disorders of glycosylation (CDGs) are a genetically heterogeneous group of metabolic disorders caused by abnormal protein or lpid glycosylation. DPM2 is one subunit of a heterotrimeric complex for dolichol-phosphatemannose synthase (DPMS), a key enzyme in glycosylation, and...

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Detalles Bibliográficos
Autores principales: Zhao, Peiwei, Hu, Yanqiu, Hu, Juan, Li, Cheng, Huang, Yufeng, Zhang, Lei, Luo, Sukun, Zhu, Hongmin, Jiang, Jun, He, Xuelian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10154465/
https://www.ncbi.nlm.nih.gov/pubmed/37152991
http://dx.doi.org/10.3389/fgene.2023.930692

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10154465/
https://www.ncbi.nlm.nih.gov/pubmed/37152991
http://dx.doi.org/10.3389/fgene.2023.930692

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