(Q44880701)

7 December 2017

title

W44C mutation in the connexin 26 gene associated with dominant non-syndromic deafness (English)

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7 December 2017

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M Tekin

1

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author name string

K S Arnos

2

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7 December 2017

X J Xia

3

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7 December 2017

M K Oelrich

4

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7 December 2017

X Z Liu

5

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7 December 2017

W E Nance

6

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7 December 2017

A Pandya

7

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7 December 2017

publication date

1 April 2001

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7 December 2017

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7 December 2017

volume

59

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7 December 2017

issue

4

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7 December 2017

page(s)

269-273

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Genetic epidemiological studies of early-onset deafness in the U.S. school-age population

7 December 2017

cites work

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Genetic epidemiology of hearing impairment

21 January 2018

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Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

21 January 2018

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

21 January 2018

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

21 January 2018

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Connexin-26 mutations in sporadic and inherited sensorineural deafness

21 January 2018

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Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness.

21 January 2018

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Connexins, connexons, and intercellular communication

21 January 2018

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Connexin mutations in deafness.

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

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https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590409.X

Connexin mutations and hearing loss.

21 January 2018

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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

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Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma.

21 January 2018

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A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350)

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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A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss

21 January 2018

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Connexin 26 gene linked to a dominant deafness

21 January 2018

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Base-calling of automated sequencer traces using phred. I. Accuracy assessment

21 January 2018

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

21 January 2018

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The pattern of disulfide linkages in the extracellular loop regions of connexin 32 suggests a model for the docking interface of gap junctions

21 January 2018

1 reference

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

21 January 2018

1 reference

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inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1034/J.1399-0004.2001.590409.X

1 reference

7 December 2017

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