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TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophy

BACKGROUND: Transport protein particle (TRAPP) is a supramolecular protein complex that functions in localizing proteins to the Golgi compartment. The TRAPPC11 subunit has been implicated in muscle disease by virtue of homozygous and compound heterozygous deleterious mutations being identified in in...

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Detalles Bibliográficos
Autores principales:	Larson, Austin A., Baker, Peter R., Milev, Miroslav P., Press, Craig A., Sokol, Ronald J., Cox, Mary O., Lekostaj, Jacqueline K., Stence, Aaron A., Bossler, Aaron D., Mueller, Jennifer M., Prematilake, Keshika, Tadjo, Thierry Fotsing, Williams, Charles A., Sacher, Michael, Moore, Steven A.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2018
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5984345/ https://www.ncbi.nlm.nih.gov/pubmed/29855340 http://dx.doi.org/10.1186/s13395-018-0163-0

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