Phenotypic characteristics of early Wolfram syndrome

BACKGROUND: Wolfram Syndrome (WFS:OMIM 222300) is an autosomal recessive, progressive, neurologic and endocrinologic degenerative disorder caused by mutations in the WFS1 gene, encoding the endoplasmic reticulum (ER) protein wolframin, thought to be involved in the regulation of ER stress. This pape...

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Detalles Bibliográficos
Autores principales: Marshall, Bess A, Permutt, M Alan, Paciorkowski, Alexander R, Hoekel, James, Karzon, Roanne, Wasson, Jon, Viehover, Amy, White, Neil H, Shimony, Joshua S, Manwaring, Linda, Austin, Paul, Hullar, Timothy E, Hershey, Tamara
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3651298/
https://www.ncbi.nlm.nih.gov/pubmed/23981289
http://dx.doi.org/10.1186/1750-1172-8-64

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