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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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| Main Authors: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2008
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| Assuntos: | |
| Acesso em linha: | 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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