(Q35198577)

7 August 2017

title

Autosomal dominant retinitis pigmentosa: absence of the rhodopsin proline----histidine substitution (codon 23) in pedigrees from Europe (English)

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7 August 2017

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5

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7 August 2017

G J Farrar

1

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7 August 2017

P Kenna

2

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7 August 2017

R Redmond

3

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7 August 2017

P McWilliam

4

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7 August 2017

M M Humphries

6

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7 August 2017

E M Sharp

7

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7 August 2017

C F Inglehearn

8

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7 August 2017

R Bashir

9

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7 August 2017

M Jay

10

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7 August 2017

language of work or name

English

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publication date

1 December 1990

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American Journal of Human Genetics

7 August 2017

published in

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7 August 2017

volume

47

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7 August 2017

issue

6

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7 August 2017

page(s)

941-945

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A modified ERG technique and the results obtained in X-linked retinitis pigmentosa

7 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683905

Isolation and nucleotide sequence of the gene encoding human rhodopsin

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683905

A study of retinitis pigmentosa in the City of Birmingham. I Prevalence

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683905

A polymorphic DNA marker genetically linked to Huntington's disease

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683905

A clinical, psychophysical, and electroretinographic survey of patients with autosomal dominant retinitis pigmentosa

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683905

Splice junction mutation in some Ashkenazi Jews with Tay-Sachs disease: evidence against a single defect within this ethnic group

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683905

Human cellular retinol-binding protein gene organization and chromosomal location

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683905

The cellular retinol binding protein II gene. Sequence analysis of the rat gene, chromosomal localization in mice and humans, and documentation of its close linkage to the cellular retinol binding protein gene

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683905

Degenerative changes in a retina affected with autosomal dominant retinitis pigmentosa.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683905

Chromosomal localization of genes encoding guanine nucleotide-binding protein subunits in mouse and human

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683905

Factor XI (plasma thromboplastin antecedent) deficiency in Ashkenazi Jews is a bleeding disorder that can result from three types of point mutations

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683905

Detection of DNA sequence polymorphisms by enzymatic amplification and direct genomic sequencing

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683905

Linkage to D3S47 (C17) in one large autosomal dominant retinitis pigmentosa family and exclusion in another: confirmation of genetic heterogeneity

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683905

Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus homogeneity tests

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683905

A point mutation of the rhodopsin gene in one form of retinitis pigmentosa

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683905

Two types of visual dysfunction in autosomal dominant retinitis pigmentosa.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683905

Autosomal dominant retinitis pigmentosa (ADRP): Localization of an ADRP gene to the long arm of chromosome 3

26 September 2018

1 reference

12 December 2020

No evidence for linkage between late onset autosomal dominant retinitis pigmentosa and chromosome 3 locus D3S47 (C17): evidence for genetic heterogeneity

1 reference

12 December 2020

Gene of type II autosomal dominant retinitis pigmentosa maps on the long arm of chromosome 3

1 reference

12 December 2020

Two forms of autosomal dominant primary retinitis pigmentosa

1 reference

12 December 2020

Prevalence of retinitis pigmentosa in Maine

1 reference

12 December 2020

Identifiers

PMC publication ID

1683905

1 reference

7 August 2017

1 reference