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Mutations in STT3A and STT3B cause two congenital disorders of glycosylation

We describe two unreported types of congenital disorders of glycosylation (CDG) which are caused by mutations in different isoforms of the catalytic subunit of the oligosaccharyltransferase (OST). Each isoform is encoded by a different gene (STT3A or STT3B), resides in a different OST complex and ha...

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Detalles Bibliográficos
Main Authors: Shrimal, Shiteshu, Ng, Bobby G., Losfeld, Marie-Estelle, Gilmore, Reid, Freeze, Hudson H.
Formato: Artigo
Idioma:Inglês
Publicado: Oxford University Press 2013
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3888133/
https://ncbi.nlm.nih.gov/pubmed/23842455
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddt312
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