(Q24672618)

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Loci for autosomal dominant retinitis pigmentosa and dominant cystoid macular dystrophy on chromosome 7p are not allelic

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title

Loci for autosomal dominant retinitis pigmentosa and dominant cystoid macular dystrophy on chromosome 7p are not allelic (English)

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1 reference

C Inglehearn

1

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T J Keen

series ordinal

2

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M al-Maghtheh

series ordinal

3

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S Bhattacharya

series ordinal

4

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language of work or name

English

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publication date

September 1994

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published in

American Journal of Human Genetics

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volume

55

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issue

3

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page(s)

581-2

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cites work

Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy

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=1918416

retrieved

7 April 2017

Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS 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=1918416

retrieved

7 April 2017

A new locus for autosomal dominant retinitis pigmentosa on chromosome 7p.

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=1918416

retrieved

28 September 2017

Further refinement of the location for autosomal dominant retinitis pigmentosa on chromosome 7p (RP9)

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=1918416

retrieved

28 September 2017

Autosomal dominant retinitis pigmentosa with apparent incomplete penetrance: a clinical, electrophysiological, psychophysical, and molecular genetic 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=1918416

retrieved

28 September 2017

A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8079997

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Localization of the gene for dominant cystoid macular dystrophy on chromosome 7p

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stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8079997

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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PMC publication ID

1918416

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PubMed publication ID

8079997

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(Q24672618)

Loci for autosomal dominant retinitis pigmentosa and dominant cystoid macular dystrophy on chromosome 7p are not allelic

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