GJB2 as Well as SLC26A4 Gene Mutations are Prominent Causes for Congenital Deafness.

about

Mutation Analysis of the Common Deafness Genes in Patients with Nonsyndromic Hearing Loss in Linyi by SNPscan Assay Prevalence of Mutations in Deafness-Causing Genes in Cochlear Implanted Patients with Profound Nonsyndromic Sensorineural Hearing Loss in Shandong Province, China.

P2860

Q36924755-0A24C763-3075-4A1E-9C5A-E61C1A93B8DF Q48275976-EFB9B5A2-558D-4978-BC2F-8C2C78F0AECC

P2860

GJB2 as Well as SLC26A4 Gene Mutations are Prominent Causes for Congenital Deafness.

Item

http://www.wikidata.org/entity/Q50353156

description

2015 nî lūn-bûn

@nan

2015年の論文

@ja

2015年学术文章

@wuu

2015年学术文章

@zh

2015年学术文章

@zh-cn

2015年学术文章

@zh-hans

2015年学术文章

@zh-my

2015年学术文章

@zh-sg

2015年學術文章

@yue

2015年學術文章

@zh-hant

name

GJB2 as Well as SLC26A4 Gene Mutations are Prominent Causes for Congenital Deafness.

@en

GJB2 as Well as SLC26A4 Gene Mutations are Prominent Causes for Congenital Deafness.

@nl

type

Item

label

GJB2 as Well as SLC26A4 Gene Mutations are Prominent Causes for Congenital Deafness.

@en

GJB2 as Well as SLC26A4 Gene Mutations are Prominent Causes for Congenital Deafness.

@nl

prefLabel

GJB2 as Well as SLC26A4 Gene Mutations are Prominent Causes for Congenital Deafness.

@en

GJB2 as Well as SLC26A4 Gene Mutations are Prominent Causes for Congenital Deafness.

@nl

P1476

GJB2 as Well as SLC26A4 Gene Mutations are Prominent Causes for Congenital Deafness.

@en

P2093

Chuanxia Wang

http://www.w3.org/2001/XMLSchema#string

Feng Suo

http://www.w3.org/2001/XMLSchema#string

Guangming Wang

http://www.w3.org/2001/XMLSchema#string

Maosheng Gu

http://www.w3.org/2001/XMLSchema#string

Yuan Fang

http://www.w3.org/2001/XMLSchema#string

Yujuan Xia

http://www.w3.org/2001/XMLSchema#string

P2860

Functional characterization of the mitochondrial 12S rRNA C1494T mutation associated with aminoglycoside-induced and non-syndromic hearing loss

Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss

Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations

Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment

GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review

Linkage of autosomal dominant hearing loss to the short arm of chromosome 1 in two families

Gap junctions in the rat cochlea: immunohistochemical and ultrastructural analysis

Molecular epidemiology and functional assessment of novel allelic variants of SLC26A4 in non-syndromic hearing loss patients with enlarged vestibular aqueduct in China

Loss of cochlear HCO3- secretion causes deafness via endolymphatic acidification and inhibition of Ca2+ reabsorption in a Pendred syndrome mouse model.

Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?

P2888

s12013-015-0562-3

P304

41-44

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1007/S12013-015-0562-3

http://www.w3.org/2001/XMLSchema#string

P433

http://www.w3.org/2001/XMLSchema#string

P478

http://www.w3.org/2001/XMLSchema#string

P577

2015-02-04T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P698

25649612

http://www.w3.org/2001/XMLSchema#string

GJB2 as Well as SLC26A4 Gene Mutations are Prominent Causes for Congenital Deafness.

about

P2860

P2860

GJB2 as Well as SLC26A4 Gene Mutations are Prominent Causes for Congenital Deafness.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P577

P698

P356

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P577

P698