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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Bibliografische gegevens
Hoofdauteurs: 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
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: BioMed Central 2013
Onderwerpen:
Research
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3651298/
https://ncbi.nlm.nih.gov/pubmed/23981289
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-8-64
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