Retinitis pigmentosa and related disorders: phenotypes of rhodopsin and peripherin/RDS mutations (Q40523586)

21 September 2017

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title

Retinitis pigmentosa and related disorders: phenotypes of rhodopsin and peripherin/RDS mutations (English)

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21 September 2017

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Shastry BS

1

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21 September 2017

1 October 1994

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American Journal of Medical Genetics Part A

21 September 2017

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21 September 2017

52

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21 September 2017

467-474

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21 September 2017

4

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

21 September 2017

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1320520413

Ocular findings associated with a rhodopsin gene codon 58 transversion mutation in autosomal dominant retinitis pigmentosa.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1320520413

Ocular findings associated with a rhodopsin gene codon 106 mutation. Glycine-to-arginine change in autosomal dominant retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1320520413

Ocular findings associated with rhodopsin gene codon 17 and codon 182 transition mutations in dominant retinitis pigmentosa.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1320520413

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%2FAJMG.1320520413

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%2FAJMG.1320520413

Retinal function and rhodopsin levels in autosomal dominant retinitis pigmentosa with rhodopsin mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1320520413

Dominant retinitis pigmentosa associated with two rhodopsin gene mutations. Leu-40-Arg and an insertion disrupting the 5'-splice junction of exon 5.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1320520413

Molecular genetics of human visual pigments

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1320520413

Recent developments in certain X-linked genetic eye disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1320520413

Ocular findings in patients with autosomal dominant retinitis pigmentosa and rhodopsin, proline-347-leucine

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1320520413

Phenotypic Variation Including Retinitis Pigmentosa, Pattern Dystrophy, and Fundus Flavimaculatus in a Single Family With a Deletion of Codon 153 or 154 of the Peripherin/RDS Gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1320520413

21 January 2018

Identifiers

DOI

10.1002/AJMG.1320520413

1 reference

21 September 2017

1 reference

PubMed ID

7747760