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Carbohydrate-deficient glycoprotein syndrome type V: Deficiency of dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichyl glucosyltransferase

Deficiency of dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichyl glucosyltransferase is the cause of an additional type of carbohydrate-deficient glycoprotein syndrome (CDGS type V). Clinically this type resembles the classical type Ia of CDGS caused by the deficiency of phosphomannomutase. As a result of t...

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Autori principali: Körner, Christian, Knauer, Roland, Holzbach, Ulrike, Hanefeld, Folker, Lehle, Ludwig, von Figura, Kurt
Natura: Artigo
Lingua:Inglês
Pubblicazione: The National Academy of Sciences 1998
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC23759/
https://ncbi.nlm.nih.gov/pubmed/9789065
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