A point mutation in the RDS-peripherin gene in a Spanish family with central areolar choroidal dystrophy (Q28284673)

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A Serra

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E Gean

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M Vidal

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J Arumí

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M D De la Calzada

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J Antich

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M Carballo

Localization of peripherin/rds in the disk membranes of cone and rod photoreceptors: relationship to disk membrane morphogenesis and retinal degeneration

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language of work or name

English

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publication date

June 1995

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39-44

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cites work

1 reference

https://api.crossref.org/works/10.3109%2F13816819509056911

A three-base-pair deletion in the peripherin–RDS gene in one form of retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816819509056911

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816819509056911

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816819509056911

A rapid procedure for extracting genomic DNA from leukocytes

21 January 2018

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https://api.crossref.org/works/10.3109%2F13816819509056911

Cloning of the human and murine ROM1 genes: genomic organization and sequence conservation

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816819509056911

Molecular cloning, primary structure, and orientation of the vertebrate photoreceptor cell protein peripherin in the rod outer segment disk membrane

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816819509056911

Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816819509056911

[31] Detection and localization of single base changes by denaturing gradient gel electrophoresis

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816819509056911

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/10.3109%2F13816819509056911

A 2 base pair deletion in the RDS gene associated with butterfly-shaped pigment dystrophy of the fovea

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816819509056911