Autosomal recessive deafness 1A (DFNB1A) in Yakut population isolate in Eastern Siberia: extensive accumulation of the splice site mutation IVS1+1G>A in GJB2 gene as a result of founder effect.
about
Spectrum and Frequency of the GJB2 Gene Pathogenic Variants in a Large Cohort of Patients with Hearing Impairment Living in a Subarctic Region of Russia (the Sakha Republic)Mutation in VPS33A affects metabolism of glycosaminoglycans: a new type of mucopolysaccharidosis with severe systemic symptomsAge-Related Hearing Impairment (ARHI) associated with GJB2 single mutation IVS1+1G>A in the Yakut population isolate in Eastern Siberia.Human capabilities, mild autism, deafness and the morality of embryo selection.Inheritance-mode specific pathogenicity prioritization (ISPP) for human protein coding genes.GJB2 c.-23+1G>A mutation is second most common mutation among Iranian individuals with autosomal recessive hearing loss.Updated carrier rates for c.35delG (GJB2) associated with hearing loss in Russia and common c.35delG haplotypes in Siberia
P2860
Q28552418-FAC4ACF2-CADF-4651-A5F0-48469B766542Q28975748-9584EA6A-62B3-4025-81DA-63EB4A0020E3Q30435992-52EA9D44-DDD4-4CE7-ADC0-3B8B72BB338BQ39482174-63D93592-77E5-4422-A877-FA0D83663FBAQ39646857-7F8CB179-A62F-4E03-AEFE-A9868F1C200AQ50354805-0D11AFC9-2707-4145-9196-D19163ACCB21Q58797582-64B0E3D4-AC93-4B4D-9CDE-7478FBCF4858
P2860
Autosomal recessive deafness 1A (DFNB1A) in Yakut population isolate in Eastern Siberia: extensive accumulation of the splice site mutation IVS1+1G>A in GJB2 gene as a result of founder effect.
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年学术文章
@wuu
2011年学术文章
@zh-cn
2011年学术文章
@zh-hans
2011年学术文章
@zh-my
2011年学术文章
@zh-sg
2011年學術文章
@yue
2011年學術文章
@zh
2011年學術文章
@zh-hant
name
Autosomal recessive deafness 1 ...... as a result of founder effect.
@en
Autosomal recessive deafness 1A
@nl
type
label
Autosomal recessive deafness 1 ...... as a result of founder effect.
@en
Autosomal recessive deafness 1A
@nl
prefLabel
Autosomal recessive deafness 1 ...... as a result of founder effect.
@en
Autosomal recessive deafness 1A
@nl
P2093
P2860
P50
P356
P1476
Autosomal recessive deafness 1 ...... as a result of founder effect.
@en
P2093
Elvira E Fedotova
Lilya U Dzhemileva
Simeon L Lobov
P2860
P2888
P304
P356
10.1038/JHG.2011.72
P577
2011-07-21T00:00:00Z
P5875
P6179
1052509437