Audioprofile-directed successful mutation analysis in a DFNA2/KCNQ4 (p.Leu274His) family.

Item

http://www.wikidata.org/entity/Q50433925

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

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-hant

name

Audioprofile-directed successful mutation analysis in a DFNA2/KCNQ4 (p.Leu274His) family.

@en

Audioprofile-directed successful mutation analysis in a DFNA2/KCNQ4

@nl

type

Item

label

Audioprofile-directed successful mutation analysis in a DFNA2/KCNQ4 (p.Leu274His) family.

@en

Audioprofile-directed successful mutation analysis in a DFNA2/KCNQ4

@nl

prefLabel

Audioprofile-directed successful mutation analysis in a DFNA2/KCNQ4 (p.Leu274His) family.

@en

Audioprofile-directed successful mutation analysis in a DFNA2/KCNQ4

@nl

P1476

Audioprofile-directed successful mutation analysis in a DFNA2/KCNQ4 (p.Leu274His) family.

@en

P2093

Anne-Martine R de Heer

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

Cor W R J Cremers

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

Jaap Oostrik

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

Lies Hoefsloot

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

Margit Schraders

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

Patrick L M Huygen

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

P2860

KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness

Impairment of SLC17A8 encoding vesicular glutamate transporter-3, VGLUT3, underlies nonsyndromic deafness DFNA25 and inner hair cell dysfunction in null mice.

Identification of novel mutations in the KCNQ4 gene of patients with nonsyndromic deafness from Taiwan.

Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families.

Novel mutation in the KCNQ4 gene in a large kindred with dominant progressive hearing loss.

Mutations in the KCNQ4 K+ channel gene, responsible for autosomal dominant hearing loss, cluster in the channel pore region.

Longitudinal gradients of KCNQ4 expression in spiral ganglion and cochlear hair cells correlate with progressive hearing loss in DFNA2.

A mutational hot spot in the KCNQ4 gene responsible for autosomal dominant hearing impairment.

A contemporary review of AudioGene audioprofiling: a machine-based candidate gene prediction tool for autosomal dominant nonsyndromic hearing loss.

Genes responsible for human hereditary deafness: symphony of a thousand.

P304

243-248

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

P31

scholarly article

P356

10.1177/000348941112000405

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

P433

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

P478

120

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

P577

2011-04-01T00:00:00Z

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

P698

21585154

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