Wolfram Syndrome: New Mutations, Different Phenotype

BACKGROUND: Wolfram Syndrome (WS) is an autosomal recessive neurodegenerative disorder characterized by Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness identified by the acronym “DIDMOAD”. The WS gene, WFS1, encodes a transmembrane protein called Wolframin, which recent evidence s...

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Autores principales: Aloi, Concetta, Salina, Alessandro, Pasquali, Lorenzo, Lugani, Francesca, Perri, Katia, Russo, Chiara, Tallone, Ramona, Ghiggeri, Gian Marco, Lorini, Renata, d'Annunzio, Giuseppe
Formato: Artigo
Lenguaje:Inglês
Publicado: Public Library of Science 2012
Materias:
Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3251553/
https://ncbi.nlm.nih.gov/pubmed/22238590
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0029150
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