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Understanding Human Glycosylation Disorders: Biochemistry Leads the Charge

Nearly 70 inherited human glycosylation disorders span a breathtaking clinical spectrum, impacting nearly every organ system and launching a family-driven diagnostic odyssey. Advances in genetics, especially next generation sequencing, propelled discovery of many glycosylation disorders in single an...

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Detalhes bibliográficos
Autor principal: Freeze, Hudson H.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Biochemistry and Molecular Biology 2013
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3591604/
https://ncbi.nlm.nih.gov/pubmed/23329837
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.R112.429274
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