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Prevalence of DFNB1 mutations in Slovak patients with non-syndromic hearing loss

✍ Scribed by Gabriel Minárik; Denisa Tretinárová; Tomáš Szemes; Ľudevít Kádasi

Book ID
116566204
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
164 KB
Volume
76
Category
Article
ISSN
0165-5876

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Mutations in the GJB2 gene encoding the gap-junction protein connexin 26 have been identified in many patients with childhood hearing impairment (HI). One single mutation, c.35delG, accounts for the majority of mutations in Caucasian patients with HI. In the present study we screened 500 healthy con