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The frequency of GJB2 and GJB6 mutations in the New York State newborn population: feasibility of genetic screening for hearing defects

✍ Scribed by T Fitzgerald; S Duva; H Ostrer; K Pass; C Oddoux; R Ruben; M Caggana

Book ID: 110887893
Publisher: John Wiley and Sons
Year: 2004
Tongue: English
Weight: 679 KB
Volume: 65
Category: Article
ISSN: 0009-9163
DOI: 10.1111/j.1399-0004.2004.00233.x

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## Abstract The __GJB2__ gene located on chromosome 13q12 and encoding the connexin 26 (Cx26) protein, a transmembrane protein involved in cell–cell attachment of almost all tissues, including the skin, causes autosomal recessive and sometimes dominant nonsyndromic sensorineural hearing loss. __GJB