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Synaptic roles for phosphomannomutase type 2 in a new Drosophila congenital disorder of glycosylation disease model

Congenital disorders of glycosylation (CDGs) constitute a rapidly growing family of human diseases resulting from heritable mutations in genes driving the production and modification of glycoproteins. The resulting symptomatic hypoglycosylation causes multisystemic defects that include severe neurol...

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Détails bibliographiques
Publié dans:Dis Model Mech
Auteurs principaux: Parkinson, William M., Dookwah, Michelle, Dear, Mary Lynn, Gatto, Cheryl L., Aoki, Kazuhiro, Tiemeyer, Michael, Broadie, Kendal
Format: Artigo
Langue:Inglês
Publié: The Company of Biologists Ltd 2016
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4892659/
https://ncbi.nlm.nih.gov/pubmed/26940433
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1242/dmm.022939
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