Article
Encephalopathy caused by novel mutations in the CMP-sialic acid transporter, SLC35A1.
American journal of medical genetics. Part A - 1 Nov 2017
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
Abstract excerpt
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 presentation and identified rare compound heterozygous mutations, p.Thr156Arg and p.Glu196Lys, in the CMP-sialic acid...
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