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ГЕНЕТИЧЕСКИЕ МАРКЕРЫ ОСТЕОАРТРИТА У ЖЕНЩИН С НЕДИФФЕРЕНЦИРОВАННОЙ ДИСПЛАЗИЕЙ СОЕДИНИТЕЛЬНОЙ ТКАНИ1), rs35068180 (MMP3), rs2252070 (MMP13), rs63118460 and rs2276455 (COL2A1), rs143383 (GDF5), rs

spine. 1324 deoxyribonucleic acid (DNA) samples were genotyped using a fluorescent endpoint genotyping

this variant in a homozygous state in 25 out of 29 Yakut families with congenital cataract (86%). Among 424

by individual centers working in isolation but warrant a truly collaborative effort that brings together all

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

on the structure or function of a protein without conducting functional studies. The accuracy of in silico

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

An association study was performed for genetic polymorphisms in ADRB3 (rs4994) and ADRA2A (rs


of the prevalence of congenital HL. Since a significant part of congenital HL is due to genetic causes

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