Autoimmune Disease in a DFNA6/14/38 Family carrying a Novel Missense Mutation in WFS1

Most familial cases of autosomal dominant low frequency sensorineural hearing loss (LFSNHL) are attributable to mutations in the Wolframin syndrome 1 (WFS1) gene at the DFNA6/14/38 locus. WFS1 mutations at this locus were first described in 2001 in six families segregating LFSNHL that was non-progre...

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Bibliographic Details
Main Authors:	Hildebrand, Michael S., Sorensen, Jessica L., Jensen, Maren, Kimberling, William J., Smith, Richard J.H.
Format:	Artigo
Language:	Inglês
Published:	2008
Subjects:	Article
Online Access:	https://ncbi.nlm.nih.gov/pmc/articles/PMC2586182/ https://ncbi.nlm.nih.gov/pubmed/18688868 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.32449
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Autoimmune Disease in a DFNA6/14/38 Family carrying a Novel Missense Mutation in WFS1

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