DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and Genetic Description of 11 New Patients

Pathogenic mutations in DPAGT1 cause a rare type of a congenital disorder of glycosylation termed DPAGT1-CDG or, alternatively, a milder version with only myasthenia known as DPAGT1-CMS. Fourteen disease-causing mutations in 28 patients from 10 families have previously been reported to cause the sys...

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Publicado no:JIMD Rep
Main Authors: Ng, Bobby G., Underhill, Hunter R., Palm, Lars, Bengtson, Per, Rozet, Jean-Michel, Gerber, Sylvie, Munnich, Arnold, Zanlonghi, Xavier, Stevens, Cathy A., Kircher, Martin, Nickerson, Deborah A., Buckingham, Kati J., Josephson, Kevin D., Shendure, Jay, Bamshad, Michael J., Freeze, Hudson H., Eklund, Erik A.
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2018
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6323016/
https://ncbi.nlm.nih.gov/pubmed/30117111
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2018_128
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