Výsledky vyhledávání - "Edilia E. Konnikova"

A novel pathogenic variant c.975GA (p.Trp325*) in the POU3F4 gene in Yakut family (Eastern Siberia, Russia) with the X-linked deafness-2 (DFNX2)

Autor: Alexander A. Bondar, Alexander V. Tobokhov, Edilia E. Konnikova, Fedor M. Teryutin, Georgii P. Romanov, Olga L. Posukh, V.G. Pshennikova, Leonid A. Klarov, Igor Morozov, Mikhail I. Tomsky, Elza Khusnutdinova, Aisen V. Solovyev, Nikolay A. Barashkov, Sardana A. Fedorova, Lilya U. Dzhemileva

Publikováno v: International journal of pediatric otorhinolaryngology. 104

Here, we report a novel hemizygous transition c.975G>A (p.Trp325*) in POU3F4 gene (Xq21) found in two deaf half-brothers from one Yakut family (Eastern Siberia, Russia) with identical inner ear abnormalities ("corkscrew" cochlea with an absence of mo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b25d284be464bc0f92ff410ec7dceebc
https://pubmed.ncbi.nlm.nih.gov/29287890

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