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Article

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

European journal of human genetics : EJHG - 1 Apr 2009

Mani Ram Shankar, Ganapathy Aparna, Jalvi Rajeev, Srikumari Srisailapathy C R, Malhotra Vikas, Chadha Shelly, Agarwal Arun, Ramesh Arabandi, Rangasayee Raghunath Rao, Anand Anuranjan

Abstract excerpt

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, Y136X, R143W, R184P) being mutations previously described. To gain insight into functional consequences of these...

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Identifiers

PMID: 18941476
DOI: 10.1038/ejhg.2008.179
PMCID: PMC2986212

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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