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Solving Glycosylation Disorders: Fundamental Approaches Reveal Complicated Pathways

Over 100 human genetic disorders result from mutations in glycosylation-related genes. In 2013, a new glycosylation disorder was reported every 17 days. This trend will probably continue given that at least 2% of the human genome encodes glycan-biosynthesis and -recognition proteins. Established bio...

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Detalles Bibliográficos
Autores principales: Freeze, Hudson H., Chong, Jessica X., Bamshad, Michael J., Ng, Bobby G.
Formato: Artigo
Lenguaje:Inglês
Publicado: Elsevier 2014
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3928651/
https://ncbi.nlm.nih.gov/pubmed/24507773
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2013.10.024
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