(Q48261886)

10 February 2018

title

GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation. (English)

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10 February 2018

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Guy Van Camp

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author name string

Akihiro Ohtsuka

1

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Isamu Yuge

2

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Shinobu Kimura

3

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Atsushi Namba

4

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Satoko Abe

5

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Lut Van Laer

6

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Shin-ichi Usami

8

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10 February 2018

publication date

31 January 2003

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10 February 2018

published in

Human Genetics

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10 February 2018

volume

112

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issue

4

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page(s)

329-333

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https://scigraph.springernature.com/pub.10.1007/s00439-002-0889-x

exact match

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cites work

Three novel connexin26 gene mutations in autosomal recessive non-syndromic deafness

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12 December 2020

Prevalent connexin 26 gene (GJB2) mutations in Japanese

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12 December 2020

Better speech performance in cochlear implant patients with GJB2-related deafness

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12 December 2020

High carrier frequency of the 35delG deafness mutation in European populations

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12 December 2020

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

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12 December 2020

Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group.

1 reference

12 December 2020

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

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12 December 2020

A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment.

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12 December 2020

Connexin26 mutations associated with nonsyndromic hearing loss.

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12 December 2020

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

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12 December 2020

Successful cochlear implantation in prelingual profound deafness resulting from the common 233delC mutation of the GJB2 gene in the Japanese

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12 December 2020

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

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12 December 2020

Connexin 26 R143W mutation associated with recessive nonsyndromic sensorineural deafness in Africa

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12 December 2020

A Moroccan family with autosomal recessive sensorineural hearing loss caused by a mutation in the gap junction protein gene connexin 26 (GJB2).

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12 December 2020

The fundamental and medical impacts of recent progress in research on hereditary hearing loss.

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12 December 2020

The prevalence of connexin 26 ( GJB2) mutations in the Chinese population.

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12 December 2020

Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene

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12 December 2020

High frequency of the deafness-associated 167delT mutation in the connexin 26 (GJB2) gene in Israeli Ashkenazim

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12 December 2020

10.1007/S00439-002-0889-X

Identifiers

DOI

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10 February 2018