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...

Descripció completa

Guardat en:
Dades bibliogràfiques
Autors principals: Aloi, Concetta, Salina, Alessandro, Pasquali, Lorenzo, Lugani, Francesca, Perri, Katia, Russo, Chiara, Tallone, Ramona, Ghiggeri, Gian Marco, Lorini, Renata, d'Annunzio, Giuseppe
Format: Artigo
Idioma:Inglês
Publicat: Public Library of Science 2012
Matèries:
Research Article
Accés en línia: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
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars