Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa

A growing number of human diseases have been linked to defects in protein glycosylation that affects a wide range of organs. Among them, O-mannosylation is an unusual type of protein glycosylation that is largely restricted to the muscular and nerve system. Consistently, mutations in genes involved...

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Detalhes bibliográficos
Publicado no:Hum Mol Genet
Main Authors: Xu, Mingchu, Yamada, Takeyuki, Sun, Zixi, Eblimit, Aiden, Lopez, Irma, Wang, Feng, Manya, Hiroshi, Xu, Shan, Zhao, Li, Li, Yumei, Kimchi, Adva, Sharon, Dror, Sui, Ruifang, Endo, Tamao, Koenekoop, Robert K., Chen, Rui
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2016
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4805308/
https://ncbi.nlm.nih.gov/pubmed/26908613
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddw022
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