The p.V37I exclusive genotype of GJB2: a genetic risk-indicator of postnatal permanent childhood hearing impairment.
about
The Relationship between the p.V37I Mutation in GJB2 and Hearing Phenotypes in Chinese IndividualsEstablishment of a Flexible Real-Time Polymerase Chain Reaction-Based Platform for Detecting Prevalent Deafness Mutations Associated with Variable Degree of Sensorineural Hearing Loss in Koreans.Characterization of a knock-in mouse model of the homozygous p.V37I variant in Gjb2.Prevalence of p.V37I variant of GJB2 in mild or moderate hearing loss in a pediatric population and the interpretation of its pathogenicityMutation Spectrum of Common Deafness-Causing Genes in Patients with Non-Syndromic Deafness in the Xiamen Area, ChinaThe high frequency of GJB2 gene mutation c.313_326del14 suggests its possible origin in ancestors of Lithuanian population.Cordblood-Based High-Throughput Screening for Deafness Gene of 646 Newborns in Jinan Area of China.Prevalence of p.V37I variant of GJB2 among Chinese infants with mild or moderate hearing loss.The homozygous p.V37I variant of GJB2 is associated with diverse hearing phenotypes.Simultaneous multi‑gene mutation screening using SNPscan in patients from ethnic minorities with nonsyndromic hearing‑impairment in Northwest China.Prevalence of Mutations in Deafness-Causing Genes in Cochlear Implanted Patients with Profound Nonsyndromic Sensorineural Hearing Loss in Shandong Province, China.GJB2 and mitochondrial 12S rRNA susceptibility mutations in sudden deafness.Identification of four novel connexin 26 mutations in non-syndromic deaf patients: genotype-phenotype analysis in moderate cases.Comparison between hearing screening-detected cases and sporadic cases of delayed-onset hearing loss in preschool-age children.Homozygosity for the V37I GJB2 mutation in fifteen probands with mild to moderate sensorineural hearing impairment: further confirmation of pathogenicity and haplotype analysis in Asian populations
P2860
Q28548063-730EFFCC-CD28-44E2-BE2F-FD4939A2347CQ30373865-87BC438F-615A-4AB6-A25C-1CDD3BDCA31FQ30810767-7D01B988-86DF-4D40-BC00-E8A74C984F84Q34700455-7C0747CE-32A8-4AE5-9D1C-7CC94029F264Q35739700-408484DF-1164-4CAE-9EDD-F8EB12509F22Q35929073-54BF7EDC-A296-4220-8C65-02294CC0AB2EQ42072188-154B99BB-EDAF-42A3-9DEF-F14552410CB1Q42126057-B9FB02D8-56CC-4BD3-A2C4-28EDB4860A2CQ46020828-A2F8B4E6-9006-4E49-97A4-1E9EAA9D1936Q47811506-ACB1227D-43B5-4965-A90A-884B99531D25Q48275976-09C6DF37-7DA7-4A50-8827-E95F50DE777BQ50352339-7ABD3812-149C-4611-A881-B23B27563685Q50356398-712A8069-11A9-4AA8-A0EC-E950B36035D5Q50425978-F10167E1-25FB-41ED-99E1-D4BDA03A4DCFQ57250602-BD47F955-BA2A-41E5-9AE4-B771D0003F54
P2860
The p.V37I exclusive genotype of GJB2: a genetic risk-indicator of postnatal permanent childhood hearing impairment.
description
2012 nî lūn-bûn
@nan
2012 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
The p.V37I exclusive genotype ...... childhood hearing impairment.
@ast
The p.V37I exclusive genotype ...... childhood hearing impairment.
@en
The p.V37I exclusive genotype ...... childhood hearing impairment.
@nl
type
label
The p.V37I exclusive genotype ...... childhood hearing impairment.
@ast
The p.V37I exclusive genotype ...... childhood hearing impairment.
@en
The p.V37I exclusive genotype ...... childhood hearing impairment.
@nl
prefLabel
The p.V37I exclusive genotype ...... childhood hearing impairment.
@ast
The p.V37I exclusive genotype ...... childhood hearing impairment.
@en
The p.V37I exclusive genotype ...... childhood hearing impairment.
@nl
P2093
P2860
P1433
P1476
The p.V37I exclusive genotype ...... childhood hearing impairment.
@en
P2093
Guoyin Yao
Jingrong Lu
Mingliang Xiang
Xiaohua Li
Yongchuan Chai
P2860
P304
P356
10.1371/JOURNAL.PONE.0036621
P407
P577
2012-05-04T00:00:00Z