Encephalopathy caused by Novel Mutations in the CMP-Sialic Acid Transporter, SLC35A1

Transport of activated nucleotide-sugars into the Golgi is critical for proper glycosylation and mutations in these transporters cause a group of rare genetic disorders termed congenital disorders of glycosylation. We performed exome sequencing on an individual with a profound neurological presentat...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Am J Med Genet A
Prif Awduron: Ng, Bobby G., Asteggiano, Carla G., Kircher, Martin, Buckingham, Kati J., Raymond, Kimiyo, Nickerson, Deborah A., Shendure, Jay, Bamshad, Michael J., Ensslen, Matthias, Freeze, Hudson H.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2017
Pynciau:
Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC5650519/
https://ncbi.nlm.nih.gov/pubmed/28856833
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.38412
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