(Q24796615)

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Identification of three novel OA1 gene mutations identified in three families misdiagnosed with congenital nystagmus and carrier status determination by real-time quantitative PCR assay

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scholarly article

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Identification of three novel OA1 gene mutations identified in three families misdiagnosed with congenital nystagmus and carrier status determination by real-time quantitative PCR assay (English)

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congenital disorder

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1 reference

based on heuristic

inferred from title

congenital nystagmus

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based on heuristic

inferred from title

Mireille Claustres

4

object named as

Mireille Claustres

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Sylvie Tuffery-Giraud

2

object named as

Sylvie Tuffery-Giraud

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author name string

Valérie Faugère

1

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Christian Hamel

3

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language of work or name

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publication date

7 January 2003

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4

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1

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1

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Ocular albinism: evidence for a defect in an intracellular signal transduction system

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=140306

7 April 2017

New insights into ocular albinism type 1 (OA1): Mutations and polymorphisms of the OA1 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=140306

7 April 2017

Deletion in the OA1 gene in a family with congenital X linked nystagmus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=140306

7 April 2017

Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=140306

7 April 2017

Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=140306

7 April 2017

X-linked ocular albinism: prevalence and mutations--a national study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=140306

7 April 2017

Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=140306

7 April 2017

The ocular albinism type 1 gene product is an N-glycoprotein but glycosylation is not required for its subcellular distribution

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=140306

28 September 2017

Genetic mapping of X linked ocular albinism: linkage analysis in British families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=140306

28 September 2017

Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=140306

30 May 2018

Visual system anomalies in human ocular albinos

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=140306

30 May 2018

Clinical and molecular characterization of a family affected with X-linked ocular albinism(OA1)

1 reference

https://pubmed.ncbi.nlm.nih.gov/12515581

12 December 2020

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10.1186/1471-2156-4-1

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Consolidated OpenCitations Corpus – April 2017

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9 September 2019

https://scigraph.springernature.com/pub.10.1186/1471-2156-4-1

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PMC publication ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PubMed publication ID

1 reference

Consolidated OpenCitations Corpus – April 2017

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