(Q34203606)

31 July 2017

title

Frequencies of gap- and tight-junction mutations in Turkish families with autosomal-recessive non-syndromic hearing loss (English)

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31 July 2017

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7

M Yuksel-Apak

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31 July 2017

O Uyguner

1

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31 July 2017

M Emiroglu

2

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31 July 2017

A Uzumcu

3

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31 July 2017

G Hafiz

4

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31 July 2017

A Ghanbari

5

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31 July 2017

N Baserer

6

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31 July 2017

B Wollnik

8

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31 July 2017

publication date

1 July 2003

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31 July 2017

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31 July 2017

volume

64

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31 July 2017

issue

1

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31 July 2017

page(s)

65-69

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Molecular genetics of hearing loss

31 July 2017

cites work

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00101.X

7 January 2021

Advances in hereditary deafness

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00101.X

7 January 2021

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00101.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00101.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00101.X

7 January 2021

Connexin-26 mutations in sporadic and inherited sensorineural deafness

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00101.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00101.X

7 January 2021

The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00101.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00101.X

7 January 2021

Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00101.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00101.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00101.X

7 January 2021

Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00101.X

7 January 2021

Mutations in GJA1 (connexin 43) are associated with non-syndromic autosomal recessive deafness

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00101.X

7 January 2021

A deletion involving the connexin 30 gene in nonsyndromic hearing impairment

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00101.X

7 January 2021

A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in Ashkenazi Jews

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00101.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00101.X

7 January 2021

Diverse functions of vertebrate gap junctions

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00101.X

7 January 2021

Gap junction systems in the mammalian cochlea

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00101.X

7 January 2021

Intercellular junctions in the reticular lamina of the organ of Corti

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00101.X

7 January 2021

Claudin multigene family encoding four-transmembrane domain protein components of tight junction strands

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00101.X

7 January 2021

Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00101.X

7 January 2021

Determination of the carrier frequency of the common GJB2 (connexin-26) 35delG mutation in the Belgian population using an easy and reliable screening method

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00101.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00101.X

7 January 2021

Autosomal recessive non-syndromic hearing loss in the Lebanese population: prevalence of the 30delG mutation and report of two novel mutations in the connexin 26 (GJB2) gene.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00101.X

7 January 2021

Determination of the frequency of connexin26 mutations in inherited sensorineural deafness and carrier rates in the Tunisian population using DGGE.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00101.X

7 January 2021

Analysis of the CFTR gene in Turkish cystic fibrosis patients: identification of three novel mutations (3172delAC, P1013L and M1028I)

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00101.X

7 January 2021

Connexin 26 (GJB2) mutations in the Turkish population: implications for the origin and high frequency of the 35delG mutation in Caucasians

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00101.X

7 January 2021

Frequency of the 35delG mutation in the connexin 26 gene in Turkish hearing-impaired patients.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00101.X

7 January 2021

Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00101.X

7 January 2021

10.1034/J.1399-0004.2003.00101.X

Identifiers

DOI

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31 July 2017

1 reference