WFS1 and GJB2 mutations in patients with bilateral low-frequency sensorineural hearing loss.

about

Time-controllable Nkcc1 knockdown replicates reversible hearing loss in postnatal mice Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction.

P2860

Q42670036-28B5DB99-50E2-4611-A645-84618974B8F3 Q55256199-9422D6C7-9C98-4A8C-8DE1-FBBD26A5CF02

P2860

WFS1 and GJB2 mutations in patients with bilateral low-frequency sensorineural hearing loss.

Item

http://www.wikidata.org/entity/Q50310715

description

2017 nî lūn-bûn

@nan

2017年の論文

@ja

2017年学术文章

@wuu

2017年学术文章

@zh

2017年学术文章

@zh-cn

2017年学术文章

@zh-hans

2017年学术文章

@zh-my

2017年学术文章

@zh-sg

2017年學術文章

@yue

2017年學術文章

@zh-hant

name

WFS1 and GJB2 mutations in pat ...... cy sensorineural hearing loss.

@en

WFS1 and GJB2 mutations in pat ...... cy sensorineural hearing loss.

@nl

type

Item

label

WFS1 and GJB2 mutations in pat ...... cy sensorineural hearing loss.

@en

WFS1 and GJB2 mutations in pat ...... cy sensorineural hearing loss.

@nl

prefLabel

WFS1 and GJB2 mutations in pat ...... cy sensorineural hearing loss.

@en

WFS1 and GJB2 mutations in pat ...... cy sensorineural hearing loss.

@nl

P1476

WFS1 and GJB2 mutations in pat ...... ncy sensorineural hearing loss

@en

P2093

Hayato Misawa

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

Hideki Mutai

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

Hirokazu Sakamoto

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

Masatsugu Masuda

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

Natsuko Kasakura-Kimura

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

Noboru Ogahara

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

Noriko Morimoto

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

Sawako Masuda

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

P2860

A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome)

Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein

WFS1 protein modulates the free Ca(2+) concentration in the endoplasmic reticulum

Mutations in the WFS1 gene are a frequent cause of autosomal dominant nonsyndromic low-frequency hearing loss in Japanese

The gene for an inherited form of deafness maps to chromosome 5q31

A method and server for predicting damaging missense mutations

Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss

Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1

A novel locus for autosomal dominant nonsyndromic hearing loss (DFNA44) maps to chromosome 3q28-29

A gene for autosomal dominant nonsyndromic hereditary hearing impairment maps to 4p16.3

P304

E324-E329

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

P31

scholarly article

P356

10.1002/LARY.26528

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

P407

English

P433

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

P478

127

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

P50

Tatsuo Matsunaga

Koichiro Saito

P577

2017-03-08T00:00:00Z

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

P698

28271504

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

WFS1 and GJB2 mutations in patients with bilateral low-frequency sensorineural hearing loss.

about

P2860

P2860

WFS1 and GJB2 mutations in patients with bilateral low-frequency sensorineural hearing loss.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698