Solovyev, A.V.,
Barashkov, N.A.,
Bady-Khoo, M.S.,
Zytsar, M.V.,
Posukh, O.L.,
Romanov, G.P.,
Rafailov, A.M.,
Sazonov, N.N.,
Alexeev, A.N.,
Dzhemileva, L.U.,
Khusnutdinova, E.K.,
Fedorova, S.A. (2017) The c.-23+1G>A splice site
mutation is one of the most frequent
mutations of gene GJB2 (Cx26, 13q11
-sensory neuropathies caused by
mutations in the GJB1 gene (gap junction B1 type). The authors have established earlier
Motloch, L.J.,
Larbig, R.,
Darabi, T.,
Reda, S.,
Motloch, K.A.,
Wernly, B.,
Lichtenauer, M.,
Gebing, T.,
Schwaiger, A.,
Zagidullin, N.,
Wolny, M.,
Hoppe, U.C. (2017) Background Caveolin-3 (cav-3)
mutations are linked to the long-QT syndrome (LQTS) causing distinct
Khusnutdinova, E.K.,
Dzhemileva, L.U.,
Lobov, S.L.,
Kuznetzov, D.U.,
Nazirova, A.G.,
Nurgalina, E.M.,
Barashkov, N.A.,
Fedorova, S.A. (2017) carrier frequency of c.35delG,
c.167delT and c.235delC
mutations of the GJB2 gene in 17 populations
Bikbova, M.M.,
Usubova, E.L.,
Oganisyana, K.Kh.,
Lobov, S.L.,
Khasanovad, R.R.,
Dzhemilevab, L.U.,
Khusnutdinova, E.K. (2017) , and the gene of lysyloxidase (LOX). The linkage analysis reveals over 17 chromosomal regions
mutations in which