A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect? (Q28207515)

1

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Patricia Blanchet

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Michel Mondain

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Anne-Francoise Roux

European Journal of Human Genetics

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language of work or name

English

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publication date

January 2002

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published in

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volume

10

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issue

1

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page(s)

72-6

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cites work

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200762

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/10.1038%2FSJ.EJHG.5200762

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200762

Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200762

Connexin 26 gene linked to a dominant deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200762

The gap junction communication channel

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200762

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/10.1038%2FSJ.EJHG.5200762

Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200762

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200762

Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200762

Mutations in GJB6 cause hidrotic ectodermal dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200762

Human connexin 30 (GJB6), a candidate gene for nonsyndromic hearing loss: molecular cloning, tissue-specific expression, and assignment to chromosome 13q12

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200762

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200762

Expression of connexin 30 in the developing mouse cochlea

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200762

Expression of the gap-junction connexins 26 and 30 in the rat cochlea

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200762

Molecular cloning and functional expression of mouse connexin-30,a gap junction gene highly expressed in adult brain and skin

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200762

Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200762

Sensorineural deafness in X-linked Charcot-Marie-Tooth disease with connexin 32 mutation (R142Q)

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200762

inferred from DOI database lookup

7 January 2021

based on heuristic

Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200762