Connexin 26 mutations in hereditary non-syndromic sensorineural deafness (Q28115871)

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English	Connexin 26 mutations in hereditary non-syndromic sensorineural deafness	scientific journal article

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scholarly article

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4 January 2017

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness (English)

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4 January 2017

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David P. Kelsell

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author name string

D. P. Kelsell

1

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4 January 2017

J. Dunlop

2

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4 January 2017

H. P. Stevens

3

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4 January 2017

N. J. Lench

4

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4 January 2017

J. N. Liang

5

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4 January 2017

G. Parry

6

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4 January 2017

R. F. Mueller

7

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4 January 2017

I. M. Leigh

8

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4 January 2017

language of work or name

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publication date

1 May 1997

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4 January 2017

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4 January 2017

387

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4 January 2017

6628

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4 January 2017

80–83

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4 January 2017

Genetic epidemiology of hearing impairment

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Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene

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Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2

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Defective myosin VIIA gene responsible for Usher syndrome type 1B

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Hereditary palmoplantar keratoderma with deafness

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A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene

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A gene responsible for a dominant form of neurosensory non-syndromic deafness maps to the NSRD1 recessive deafness gene interval

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The gene responsible for Clouston hidrotic ectodermal dysplasia maps to the pericentromeric region of chromosome 13q

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Assignment of connexin 26 (GJB2) and 46 (GJA3) genes to human chromosome 13q11-->q12 and mouse chromosome 14D1-E1 by in situ hybridization

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The gap junction communication channel

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Molecular biology and genetics of gap junction channels

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Expression of gap junction proteins Cx26, Cx31.1, Cx37, and Cx43 in developing and mature rat epidermis

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Structure of gap junction intercellular channels

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Keratin expression in basal cell carcinomas

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Genes responsible for human hereditary deafness: symphony of a thousand

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Connexin mutations in X-linked Charcot-Marie-Tooth disease

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Mutations of the Connexin43 gap-junction gene in patients with heart malformations and defects of laterality

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Identifiers

10.1038/387080A0

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Consolidated OpenCitations Corpus – April 2017

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OpenCitations bibliographic resource ID

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

ResearchGate publication ID

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Springer Nature article ID

10.1038/387080a0

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