(Q50498649)

14 March 2018

title

Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population. (English)

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14 March 2018

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T Kudo

1

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14 March 2018

K Ikeda

2

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14 March 2018

S Kure

3

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14 March 2018

Y Matsubara

4

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14 March 2018

T Oshima

5

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14 March 2018

K i Watanabe

6

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14 March 2018

T Kawase

7

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14 March 2018

K Narisawa

8

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14 March 2018

T Takasaka

9

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14 March 2018

publication date

1 January 2000

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14 March 2018

American Journal of Medical Genetics Part A

published in

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14 March 2018

volume

90

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14 March 2018

issue

2

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14 March 2018

page(s)

141-145

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14 March 2018

Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations.

cites work

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000117%2990%3A2%3C141%3A%3AAID-AJMG10%3E3.0.CO%3B2-G

Connexin-26 mutations in sporadic and inherited sensorineural deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000117%2990%3A2%3C141%3A%3AAID-AJMG10%3E3.0.CO%3B2-G

Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000117%2990%3A2%3C141%3A%3AAID-AJMG10%3E3.0.CO%3B2-G

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000117%2990%3A2%3C141%3A%3AAID-AJMG10%3E3.0.CO%3B2-G

Gap junctions in the rat cochlea: immunohistochemical and ultrastructural analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000117%2990%3A2%3C141%3A%3AAID-AJMG10%3E3.0.CO%3B2-G

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000117%2990%3A2%3C141%3A%3AAID-AJMG10%3E3.0.CO%3B2-G

Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000117%2990%3A2%3C141%3A%3AAID-AJMG10%3E3.0.CO%3B2-G

Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000117%2990%3A2%3C141%3A%3AAID-AJMG10%3E3.0.CO%3B2-G

A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000117%2990%3A2%3C141%3A%3AAID-AJMG10%3E3.0.CO%3B2-G

Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000117%2990%3A2%3C141%3A%3AAID-AJMG10%3E3.0.CO%3B2-G

21 January 2018

Hear come more genes!

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000117%2990%3A2%3C141%3A%3AAID-AJMG10%3E3.0.CO%3B2-G

10.1002/(SICI)1096-8628(20000117)90:2<141::AID-AJMG10>3.0.CO;2-G

21 January 2018

Identifiers

DOI

1 reference

14 March 2018

release_fcawhmnokrhhfjpv5msdkv6sv4

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/fcawhmnokrhhfjpv5msdkv6sv4

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

14 March 2018