The Molecular Landscape of Phosphomannose Mutase Deficiency in Iberian Peninsula: Identification of 15 Population-Specific Mutations

PMM2-CDG is an autosomal recessive disorder and the most frequent form of congenital disorder of N-glycosylation, with more than 100 mutations identified to date. Sixty-six patients from 58 unrelated families were diagnosed as PMM2-CDG (CDG-Ia) based on clinical signs or because of a previous affect...

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Main Authors: Pérez, B., Briones, P., Quelhas, D., Artuch, R., Vega, A. I., Quintana, E., Gort, L., Ecay, M. J., Matthijs, G., Ugarte, M., Pérez-Cerdá, C.
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2011
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3509825/
https://ncbi.nlm.nih.gov/pubmed/23430838
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2011_26
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