Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiency()

We report the clinical, biochemical, and molecular findings in two brothers with encephalopathy and multi-systemic disease. Abnormal transferrin glycoforms were suggestive of a type I congenital disorder of glycosylation (CDG). While exome sequencing was negative for CDG related candidate genes, the...

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Detalhes bibliográficos
Publicado no:Mitochondrion
Main Authors: Simon, Mariella T., Ng, Bobby G., Friederich, Marisa W., Wang, Raymond Y., Boyer, Monica, Kircher, Martin, Collard, Renata, Buckingham, Kati J., Chang, Richard, Shendure, Jay, Nickerson, Deborah A., Bamshad, Michael J., Van Hove, Johan L.K., Freeze, Hudson H., Abdenur, Jose E.
Formato: Artigo
Idioma:Inglês
Publicado em: 2017
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5444868/
https://ncbi.nlm.nih.gov/pubmed/28216230
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.mito.2017.02.004
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