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The c.-23+1G>A splice site mutation is one of the most frequent mutations of gene GJB2 (Cx26, 13q11

OPENING UP NEW HORIZONS FOR PSYCHIATRIC GENETICS IN THE RUSSIAN FEDERATION: MOVING TOWARD A NATIONAL CONSORTIUM

A NOVEL PATHOGENIC VARIANT C.975G>A (P.TRP325*) IN THE POU3F4 GENE IN YAKUT FAMILY (EASTERN SIBERIA, RUSSIA) WITH THE X-LINKED DEAFNESS-2 (DFNX2)Here, we report a novel hemizygous transition c.975G>A (p.Trp325*) in POU3F4 gene (Xq21) found

frequent GJB2 pathogenic variant in the Yakut patients was c.-23+1G>A (51.82%) and that the second most



carrier frequency of c.35delG, c.167delT and c.235delC mutations of the GJB2 gene in 17 populations

that the с.259C>G (р.P87A) mutation is the most frequent cause of НМСН 1Х (92%) in patients from the Republic

Here, we report a novel hemizygous transition c.975G>A (p.Trp325*) in POU3F4 gene (Xq21) found


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