(Q24540237)

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Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss

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title

Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss (English)

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1 reference

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C Rivolta

1

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author name string

E A Sweklo

series ordinal

2

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E L Berson

series ordinal

3

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T P Dryja

series ordinal

4

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language of work or name

English

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publication date

June 2000

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published in

American Journal of Human Genetics

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volume

66

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page(s)

1975-8

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issue

6

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cites work

A mutation (2314delG) in the Usher syndrome type IIA gene: high prevalence and phenotypic variation

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378039

retrieved

24 March 2017

Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with retinitis pigmentosa

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378039

retrieved

24 March 2017

Defective myosin VIIA gene responsible for Usher syndrome type 1B

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378039

retrieved

24 March 2017

Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378039

retrieved

24 March 2017

The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378039

retrieved

24 March 2017

Mutations in the myosin VIIA gene cause non-syndromic recessive deafness

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378039

retrieved

24 March 2017

Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378039

retrieved

24 March 2017

Prevalence of hearing loss in older adults in Beaver Dam, Wisconsin. The Epidemiology of Hearing Loss Study

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378039

retrieved

27 September 2017

Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa.

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378039

retrieved

27 September 2017

Usher syndrome: definition and estimate of prevalence from two high-risk populations

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378039

retrieved

27 September 2017

Hearing impairment related to age in Usher syndrome types 1B and 2A.

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378039

retrieved

30 May 2018

A gene for recessive nonsyndromic sensorineural deafness (DFNB18) maps to the chromosomal region 11p14-p15.1 containing the Usher syndrome type 1C gene.

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378039

retrieved

19 June 2018

Identifiers

DOI

10.1086/302926

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stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1597373

Fatcat ID

release_plodu6osefa6pcy3dpj5etmcve

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Fatcat

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https://api.fatcat.wiki/v0/release/plodu6osefa6pcy3dpj5etmcve

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24 November 2022

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OpenCitations bibliographic resource ID

1597373

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stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1597373

ResearchGate publication ID

12540279

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(Q24540237)

Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss

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