DDOST Mutations Identified by Whole-Exome Sequencing Are Implicated in Congenital Disorders of Glycosylation

Congenital disorders of glycosylation (CDG) are inherited autosomal-recessive diseases that impair N-glycosylation. Approximately 20% of patients do not survive beyond the age of 5 years old as a result of widespread organ dysfunction. Although most patients receive a CDG diagnosis based on abnormal...

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Bibliographische Detailangaben
Hauptverfasser: Jones, Melanie A., Ng, Bobby G., Bhide, Shruti, Chin, Ephrem, Rhodenizer, Devin, He, Ping, Losfeld, Marie-Estelle, He, Miao, Raymond, Kimiyo, Berry, Gerard, Freeze, Hudson H., Hegde, Madhuri R.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Elsevier 2012
Schlagworte:
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Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3276676/
https://ncbi.nlm.nih.gov/pubmed/22305527
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2011.12.024
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