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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...
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| Publicado no: | Am J Med Genet A |
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| Main Authors: | , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2017
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| Assuntos: | |
| Acesso em linha: | 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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