Novel mutations in the WFS1 gene are associated with Wolfram syndrome and systemic inflammation

Mutations in the WFS1 gene, encoding wolframin (WFS1), cause endoplasmic reticulum (ER) stress and are associated with a rare autosomal-recessive disorder known as Wolfram syndrome (WS). WS is clinically characterized by childhood-onset diabetes mellitus, optic atrophy, deafness, diabetes insipidus...

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Detalhes bibliográficos
Publicado no:Hum Mol Genet
Main Authors: Panfili, Eleonora, Mondanelli, Giada, Orabona, Ciriana, Belladonna, Maria L, Gargaro, Marco, Fallarino, Francesca, Orecchini, Elena, Prontera, Paolo, Proietti, Elisa, Frontino, Giulio, Tirelli, Eva, Iacono, Alberta, Vacca, Carmine, Puccetti, Paolo, Grohmann, Ursula, Esposito, Susanna, Pallotta, Maria T
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2021
Assuntos:
General Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8091036/
https://ncbi.nlm.nih.gov/pubmed/33693650
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddab040
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