Rhodopsin mutations in autosomal dominant retinitis pigmentosa. (Q34357367)

1 August 2017

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title

Rhodopsin mutations in autosomal dominant retinitis pigmentosa. (English)

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1 August 2017

al-Maghtheh M

1

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1 August 2017

Gregory C

2

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1 August 2017

Inglehearn C

3

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1 August 2017

Hardcastle A

4

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1 August 2017

Bhattacharya S

5

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1 August 2017

1 January 1993

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1 August 2017

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1 August 2017

2

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1 August 2017

4

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1 August 2017

249-255

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Ocular findings in patients with autosomal dominant retinitis pigmentosa and a rhodopsin gene defect (Pro-23-His).

1 August 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020403

Doyne Lecture. Rhodopsin and autosomal dominant retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020403

Ocular findings associated with rhodopsin gene codon 267 and codon 190 mutations in dominant retinitis pigmentosa.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020403

Autosomal dominant sectoral retinitis pigmentosa. Two families with transversion mutation in codon 23 of rhodopsin

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020403

Regional Distribution of Retinal Degeneration in Patients with the Proline to Histidine Mutation in Codon 23 of the Rhodopsion Gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020403

Rhodopsin in the rod outer segment plasma membrane

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020403

7 January 2021

Temporal Aspects of the Electroretinogram in Sector Retinitis Pigmentosa

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020403

7 January 2021

Prevalence of retinitis pigmentosa in Maine

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020403

7 January 2021

Linkage mapping of autosomal dominant retinitis pigmentosa (RP1) to the pericentric region of human chromosome 8.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020403

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020403

7 January 2021

Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020403

7 January 2021

Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020403

7 January 2021

Point mutations of rhodopsin gene found in Japanese families with autosomal dominant retinitis pigmentosa (ADRP)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020403

7 January 2021

Pro-347-Arg mutation of the rhodopsin gene in autosomal dominant retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020403

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020403

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020403

7 January 2021

Localization of an autosomal dominant retinitis pigmentosa gene to chromosome 7q

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020403

7 January 2021

Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020403

7 January 2021

Autosomal dominant retinitis pigmentosa: Four new mutations in rhodopsin, one of them in the retinal attachment site

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020403

7 January 2021

Rapid detection of single base mismatches as heteroduplexes on Hydrolink gels

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020403

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020403

7 January 2021

Two forms of autosomal dominant primary retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020403

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020403

7 January 2021

Isolation and nucleotide sequence of the gene encoding human rhodopsin

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020403

7 January 2021

Molecular genetics of inherited variation in human color vision

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020403

7 January 2021

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020403

7 January 2021

A large deletion at the 3' end of the rhodopsin gene in an Italian family with a diffuse form of autosomal dominant retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020403

7 January 2021

Constitutively active mutants of rhodopsin

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020403

7 January 2021

A leucine to arginine amino acid substitution at codon 46 of rhodopsin is responsible for a severe form of autosomal dominant retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020403

7 January 2021

A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020403

7 January 2021

Assignment of the rhodopsin gene to human chromosome three, region 3q21-3q24 by in situ hybridization studies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020403

7 January 2021

The acylation of rat rhodopsin in vitro and in vivo

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020403

7 January 2021

Rhodopsin mutations in autosomal dominant retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020403

7 January 2021

Functional heterogeneity of mutant rhodopsins responsible for autosomal dominant retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020403

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020403

7 January 2021

Identifiers

DOI

10.1002/HUMU.1380020403

1 reference

1 August 2017

1 reference