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Genetic studies in Drosophila and humans support a model for the concerted function of CISD2, PPT1 and CLN3 in disease

Wolfram syndrome (WFS) is a progressive neurodegenerative disease characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. WFS1 and WFS2 are caused by recessive mutations in the genes Wolfram Syndrome 1 (WFS1) and CDGSH iron sulfur domain 2 (CISD2), respectively. To explo...

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Bibliografiske detaljer
Main Authors: Jones, Melanie A., Amr, Sami, Ferebee, Aerial, Huynh, Phung, Rosenfeld, Jill A., Miles, Michael F., Davies, Andrew G., Korey, Christopher A., Warrick, John M., Shiang, Rita, Elsea, Sarah H., Girirajan, Santhosh, Grotewiel, Mike
Format: Artigo
Sprog:Inglês
Udgivet: The Company of Biologists 2014
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4021356/
https://ncbi.nlm.nih.gov/pubmed/24705017
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1242/bio.20147559
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