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Identification of the first COG-CDG patient of Indian Origin

Mutations in the Conserved Oligomeric Golgi (COG) complex give rise to type II congenital disorders of glycosylation (CDG). Thus far, mutations have been identified in 6 of the 8 COG subunits. Here we present data identifying a previously reported CDG-IIx case from Singapore as a new COG4 patient wi...

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Detalhes bibliográficos
Main Authors: Ng, Bobby G., Sharma, Vandana, Sun, Liangwu, Loh, Eva, Hong, Wanjin, Tay, Stacey K.H., Freeze, Hudson H.
Formato: Artigo
Idioma:Inglês
Publicado em: 2010
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3058693/
https://ncbi.nlm.nih.gov/pubmed/21185756
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2010.11.161
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