Evidence for a founder mutation causing DFNA5 hearing loss in East Asians (Q36208771)

12 August 2017

Evidence for a founder mutation causing DFNA5 hearing loss in East Asians (English)

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12 August 2017

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7

Un-Kyung Kim

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12 August 2017

Hong-Joon Park

1

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12 August 2017

Hyun-Ju Cho

2

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12 August 2017

Jeong-In Baek

3

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12 August 2017

Tamar Ben-Yosef

4

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12 August 2017

Tae-Jun Kwon

5

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12 August 2017

Andrew J Griffith

6

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12 August 2017

13 November 2009

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Journal of Human Genetics

12 August 2017

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12 August 2017

55

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12 August 2017

59-62

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12 August 2017

1

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https://scigraph.springernature.com/pub.10.1038/jhg.2009.114

12 August 2017

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cites work

A novel DFNA5 mutation does not cause hearing loss in an Iranian family.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3433838

A novel mutation identified in the DFNA5 gene in a Dutch family: a clinical and genetic evaluation

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3433838

A 3-nucleotide deletion in the polypyrimidine tract of intron 7 of the DFNA5 gene causes nonsyndromic hearing impairment in a Chinese family

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3433838

Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3433838

Nonsyndromic hearing impairment is associated with a mutation in DFNA5

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3433838

Refined mapping of a gene for autosomal dominant progressive sensorineural hearing loss (DFNA5) to a 2-cM region, and exclusion of a candidate gene that is expressed in the cochlea.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3433838

Localization of a gene for non-syndromic hearing loss (DFNA5) to chromosome 7p15.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3433838

Genetic epidemiology of hearing impairment

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3433838

A novel locus DFNA59 for autosomal dominant nonsyndromic hearing loss maps at chromosome 11p14.2-q12.3.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3433838

A novel DFNA5 mutation, IVS8+4 A>G, in the splice donor site of intron 8 causes late-onset non-syndromic hearing loss in a Chinese family.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3433838

Evidence of a founder effect for the 235delC mutation of GJB2 (connexin�26) in east Asians

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3433838

A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3433838

22 September 2018

Identifiers

DOI

10.1038/JHG.2009.114

1 reference

12 August 2017

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12 August 2017

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