Clinical evidence of the nonpathogenic nature of the M34T variant in the connexin 26 gene (Q47298411)

13 January 2018

title

Clinical evidence of the nonpathogenic nature of the M34T variant in the connexin 26 gene (English)

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13 January 2018

author

Sébastien Schmerber

8

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Christine Petit

17

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Natalie Loundon

3

Natalie Loundon

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Delphine Feldmann

1

Delphine Feldmann

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13 January 2018

Valérie Drouin-Garraud

14

Valérie Drouin-Garraud

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Remy Couderc

6

Remy Couderc

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13 January 2018

Hélène Catros

12

Hélène Catros

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13 January 2018

Sandrine Marlin

18

Sandrine Marlin

1 reference

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Eréa-Noel Garabedian

5

Erea-Noel Garabedian

1 reference

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Françoise Denoyelle

2

Françoise Denoyelle

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author name string

Dominique Weil

4

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Alain Joannard

7

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Bruno Delobel

9

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Jacques Leman

10

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Hubert Journel

11

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Claude Ferrec

13

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Marie-Françoise Obstoy

15

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Lucien Moati

16

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publication date

1 April 2004

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13 January 2018

European Journal of Human Genetics

published in

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13 January 2018

volume

12

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issue

4

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13 January 2018

page(s)

279-284

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13 January 2018

Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling.

cites work

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Connexin 26 gene linked to a dominant deafness

21 January 2018

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Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

21 January 2018

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Connexin mutations in deafness

21 January 2018

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Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family.

21 January 2018

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

21 January 2018

1 reference

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Autosomal recessive nonsyndromic neurosensory deafness at DFNB1 not associated with the compound-heterozygous GJB2 (connexin 26) genotype M34T/167delT.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201147

Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201147

High frequency hearing loss correlated with mutations in the GJB2 gene.

21 January 2018

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Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing

21 January 2018

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Hearing loss: frequency and functional studies of the most common connexin26 alleles.

21 January 2018

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The M34T allele variant of connexin 26.

21 January 2018

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A deletion involving the connexin 30 gene in nonsyndromic hearing impairment

21 January 2018

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A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families

21 January 2018

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

21 January 2018

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Genetic analysis of the connexin-26 M34T variant

21 January 2018

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Evaluation of Cx26/GJB2 in German hearing impaired persons: mutation spectrum and detection of disequilibrium between M34T (c.101T>C) and -493del10.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201147

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

21 January 2018

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Prevalent connexin 26 gene (GJB2) mutations in Japanese

21 January 2018

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Connexin26 mutations associated with nonsyndromic hearing loss.

21 January 2018

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Roles of Met-34, Cys-64, and Arg-75 in the assembly of human connexin 26. Implication for key amino acid residues for channel formation and function.

21 January 2018

1 reference

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Connexin 26 Gene Mutations in Congenitally Deaf Children

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201147

Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201147

inferred from DOI database lookup

7 January 2021

based on heuristic

Properties of connexin26 gap junctional proteins derived from mutations associated with non-syndromal heriditary deafness

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201147

inferred from DOI database lookup

7 January 2021

based on heuristic

Human connexin26 (GJB2) deafness mutations affect the function of gap junction channels at different levels of protein expression

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201147

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/SJ.EJHG.5201147

1 reference

13 January 2018

1 reference

13 January 2018