Autosomal recessive deafness 1A (DFNB1A) in Yakut population isolate in Eastern Siberia: Extensive accumulation of the splice site mutation IVS11GA in GJB2 gene as a result of founder effect

Journal of Human Genetics

Volumn 56, Issue 9, 2011, Pages 631-639

  Barashkov, Nikolay A ^a   Dzhemileva, Lilya U ^b   Fedorova, Sardana A ^a   Teryutin, Fedor M ^a,c   Posukh, Olga L ^d,e   Fedotova, Elvira E ^c   Lobov, Simeon L ^b   Khusnutdinova, Elza K ^a,b  

^a ENERGY SYSTEMS INSTITUTE   (Russian Federation)

^b INSTITUTE OF BIOCHEMISTRY AND GENETICS   (Russian Federation)

^c Republican Hospital 1   (Russian Federation)

^d INSTITUTE OF CYTOLOGY AND GENETICS   (Russian Federation)

^e NOVOSIBIRSK STATE UNIVERSITY   (Russian Federation)

Author keywords

autosomal recessive deafness 1A; Eastern Siberia; GJB2; IVS1+1G>A; Yakuts

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE DEAFNESS 1A; AUTOSOMAL RECESSIVE DISORDER; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; DISEASE SEVERITY; ETHNIC GROUP; FEMALE; GENE; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENE MUTATION; GENETIC ASSOCIATION; GENOTYPE; GJB2 GENE; HAPLOTYPE; HEARING IMPAIRMENT; HUMAN; INFANT; MALE; MICROSATELLITE MARKER; NEWBORN; RUSSIAN FEDERATION; SPLICE SITE MUTATION; YAKUT;

ADOLESCENT; ADULT; AUDIOMETRY; CHILD; CHILD, PRESCHOOL; CONNEXINS; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; FOUNDER EFFECT; GENES, RECESSIVE; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HEARING LOSS, SENSORINEURAL; HETEROZYGOTE; HOMOZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUTATION; RNA SPLICE SITES; SIBERIA; YOUNG ADULT;

EID: 80053266442     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2011.72     Document Type: Article

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