Functional consequences of novel connexin 26 mutations associated with hereditary hearing loss

In a study of 530 individuals with non-syndromic, sensorineural hearing loss, we identified 18 mutations at connexin 26 (Cx26), four of which are novel (−23G>T, I33T, 377_383dupTCCGCAT, W172R) and the remaining 14 (ivs1+1G>A, M1V, 35delG, W24X, I35S, V37I, R75W, W77X, 312del14, E120del, Q124X,...

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Autors principals: Mani, Ram Shankar, Ganapathy, Aparna, Jalvi, Rajeev, Srikumari Srisailapathy, C R, Malhotra, Vikas, Chadha, Shelly, Agarwal, Arun, Ramesh, Arabandi, Rangasayee, Raghunath Rao, Anand, Anuranjan
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group 2009
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2986212/
https://ncbi.nlm.nih.gov/pubmed/18941476
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2008.179
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