Article
Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease.
Human mutation - 1 Oct 2003
Cryns Kim, Sivakumaran Theru A, Van den Ouweland Jody M W, Pennings Ronald J E, Cremers Cor W R J, Flothmann Kris, Young Terry-Lynn, Smith Richard J H, Lesperance Marci M, Van Camp Guy
Abstract excerpt
WFS1 is a novel gene and encodes an 890 amino-acid glycoprotein (wolframin), predominantly localized in the endoplasmic reticulum. Mutations in WFS1 underlie autosomal recessive Wolfram syndrome and autosomal dominant low frequency sensorineural hearing impairment (LFSNHI) DFNA6/14. In addition, several WFS1 sequence variants have been shown to be significantly associated with diabetes mellitus and this gene has...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.