Genetic refinement of dominant optic atrophy (OPA1) locus to within a 2 cM interval of chromosome 3q (Q33678396)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9039986%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

title

Genetic refinement of dominant optic atrophy (OPA1) locus to within a 2 cM interval of chromosome 3q (English)

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1 November 2019

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1

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1 November 2019

author name string

A T Moore

series ordinal

2

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1 November 2019

S S Bhattacharya

series ordinal

3

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1 November 2019

language of work or name

English

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publication date

1 February 1997

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Journal of Medical Genetics

1 November 2019

published in

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1 November 2019

volume

34

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1 November 2019

issue

2

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1 November 2019

page(s)

117-121

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No evidence of genetic heterogeneity in dominant optic atrophy

1 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050863

A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050863

A comprehensive genetic map of the human genome based on 5,264 microsatellites

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050863

Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050863

The 1993-94 Généthon human genetic linkage map

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050863

Assignment of the gene for human melanoma-associated antigen p97 to chromosome 3.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050863

Diagnostic criteria in cominantly inherited juvenile optic atrophy. A report of three new families

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050863

Multilocus linkage analysis in humans: detection of linkage and estimation of recombination

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050863

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050863

A completed screen for mutations of the rhodopsin gene in a panel of patients with autosomal dominant retinitis pigmentosa

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050863

Dominant optic atrophy. The clinical profile

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050863

Dominant optic atrophy (OPA1) mapped to chromosome 3q region. I. Linkage analysis.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050863

Autosomal dominant optic atrophy. A spectrum of disability.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050863

Histopathology of eye, optic nerve and brain in a case of dominant optic atrophy

30 October 2018

1 reference

12 December 2020

A computer program to make linkage analysis with LIPED and LINKAGE easier to perform and less prone to input errors

1 reference

12 December 2020

Visual prognosis in autosomal dominant optic atrophy (Kjer type)

1 reference

12 December 2020

Dominant optic atrophy mapped to chromosome 3q region. II. Clinical and epidemiological aspects

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.34.2.117

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9039986%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9039986%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

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