Article

A New Missense Mutation in DPM2 Gene is Associated with a Milder Form of DPM2-CDG in Two Chinese Siblings

2022-07-27

Abstract excerpt

<title>Abstract</title> <p>Background Congenital disorders of glycosylation (CDGs) are a genetically heterogeneous group of metabolic disorders caused by abnormal protein or lpid glycoproteins. DPM2 is a subunit of a heterotrimeric complex (dolichol-phosphate-mannose synthase, DPMS), a key enzyme in glycosylation, and only four patients with DPM2-CDG have been reported. Methods Whole exome sequencing (WES) was...

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Literature Corpus work: b43dd4f1-be2c-574e-a097-f892684c1bc0
DOI: 10.21203/rs.3.rs-1776043/v1

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