Deficiency of dolichyl-P-Man:Man7GlcNAc2-PP-dolichyl mannosyltransferase causes congenital disorder of glycosylation type Ig.

Deficiency of the endoplasmic reticulum enzyme dolichyl-phosphate mannose (Dol-P-Man):Man(7)GlcNAc(2)-PP-dolichyl mannosyltransferase leads to a new type of congenital disorder of glycosylation, designated type Ig. The patient 1 presented with a multisystemic disorder with microcephaly, developmenta...

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Detalhes bibliográficos
Main Authors: Thiel, Christian, Schwarz, Markus, Hasilik, Martin, Grieben, Ulrike, Hanefeld, Folker, Lehle, Ludwig, von Figura, Kurt, Körner, Christian
Formato: Artigo
Idioma:Inglês
Publicado em: 2002
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1222867/
https://ncbi.nlm.nih.gov/pubmed/12093361
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1042/BJ20020794
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