Identification and characterization of a new variation in DPM2 gene in two Chinese siblings with mild intellectual impairment
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2023.930692
Abstract: 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… read more here.
Keywords: characterization new; siblings mild; dpm2 gene; mild intellectual ... See more keywords