Age-Related Hearing Impairment (ARHI) associated with GJB2 single mutation IVS1+1G>A in the Yakut population isolate in Eastern Siberia.

doi:10.1371/journal.pone.0100848

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Article

Age-Related Hearing Impairment (ARHI) associated with GJB2 single mutation IVS1+1G>A in the Yakut population isolate in Eastern Siberia.

PloS one - 1 Jan 2014

Barashkov Nikolay A, Teryutin Fedor M, Pshennikova Vera G, Solovyev Aisen V, Klarov Leonid A, Solovyeva Natalya A, Kozhevnikov Andrei A, Vasilyeva Lena M, Fedotova Elvira E, Pak Maria V, Lekhanova Sargylana N, Zakharova Elena V, Savvinova Kyunney E, Gotovtsev Nyurgun N, Rafailo Adyum M, Luginov Nikolay V, Alexeev Anatoliy N, Posukh Olga L, Dzhemileva Lilya U, Khusnutdinova Elza K, Fedorova Sardana A

Abstract excerpt

Age-Related Hearing Impairment (ARHI) is one of the frequent sensory disorders registered in 50% of individuals over 80 years. ARHI is a multifactorial disorder due to environmental and poor-known genetic components. In this study, we present the data on age-related hearing impairment of 48 heterozygous carriers of mutation IVS1+1G>A (GJB2 gene) and 97 subjects with GJB2 genotype wt/wt in the Republic of...

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PMID: 24959830
DOI: 10.1371/journal.pone.0100848
PMCID: PMC4069185

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GJB2

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