Identification of SLC26A4 c.919-2A>G compound heterozygosity in hearing-impaired patients to improve genetic counseling

BACKGROUND: Mutations in the SLC26A4 gene, which encodes the anion transporter, pendrin, are a major cause of autosomal recessive non-syndromic hearing loss (NSHL) in some Asian populations. SLC26A4 c.919-2A>G (IVS7-2A>G) is the most common mutation in East Asian deaf populations. To provide a...

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Detalles Bibliográficos
Autores principales: Li, Qi, Zhu, Qing-wen, Yuan, Yong-yi, Huang, Sha-sha, Han, Dong-yi, Huang, De-liang, Dai, Pu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2012
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3514144/
https://www.ncbi.nlm.nih.gov/pubmed/23151025
http://dx.doi.org/10.1186/1479-5876-10-225

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3514144/
https://www.ncbi.nlm.nih.gov/pubmed/23151025
http://dx.doi.org/10.1186/1479-5876-10-225

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