A novel nonsense mutation c.1121G>A (p.Trp374*) in the CLIC5 gene is the main cause of the juvenile autosomal recessive form of deafness (DFNB103) in the Arctic regions of Yakutia

Πηγή: Nauchno-prakticheskii zhurnal «Medicinskaia genetika». :36-48

Θεματικοί όροι: 2. Zero hunger, аутосомно-рецессивная глухота, Арктика, type 103 (DFNB103), CLIC5 gene, 3. Good health, whole exome sequencing (WES), Республика Саха (Якутия), Arctic, полноэкзомное секвенирование (WES), тип 103 (DFNB103), Republic of Sakha (Yakutia), ген CLIC5, autosomal recessive deafness

Σύνδεσμος πρόσβασης: https://www.medgen-journal.ru/jour/article/download/732/456

Some bioethical issues of molecular genetic diagnosis of autosomal recessive deafness of 1 A type common in the Yakut population

Πηγή: Yakut Medical Journal. :79-82

Θεματικοί όροι: Республика Саха (Якутия), bioethical problems, биоэтические проблемы, ДНК-диагностика, аутосомно-рецессивная глухота 1А типа, DNA diagnostics, type 1A autosomal recessive deafness, 10. No inequality, Republic Sakha (Yakutia), 3. Good health

Bioethical rules for DNA testing of autosomal recessive deafness 1A in the Republic of Sakha (Yakutia)

Συγγραφείς: S.K. Kononova, N.A. Barashkov, V.G. Pshennikova, S.A. Fedorova, F.M. Teryutin

Πηγή: Yakut Medical Journal. :115-116

Θεματικοί όροι: аутосомно-рецессивная глухота 1А типа, биоэтика, DNA diagnostics, ДНК - диагностика, autosomal recessive type 1A deafness, 10. No inequality, bioethics, 3. Good health