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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...

詳細記述

保存先:
書誌詳細
出版年:Dis Model Mech
主要な著者: Parkinson, William M., Dookwah, Michelle, Dear, Mary Lynn, Gatto, Cheryl L., Aoki, Kazuhiro, Tiemeyer, Michael, Broadie, Kendal
フォーマット: Artigo
言語:Inglês
出版事項: The Company of Biologists Ltd 2016
主題:
オンライン・アクセス: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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