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

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scientific article

Language	Label	Description	Also known as
English	A point mutation in the RDS-peripherin gene in a Spanish family with central areolar choroidal dystrophy	scientific article

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scholarly article

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

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author name string

C Reig

1

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A Serra

2

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E Gean

3

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M Vidal

4

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J Arumí

5

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M D De la Calzada

6

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J Antich

7

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M Carballo

8

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language of work or name

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publication date

June 1995

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Ophthalmic Genetics

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16

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2

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39-44

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

1 reference

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

1 reference

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

1 reference

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

1 reference

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A rapid procedure for extracting genomic DNA from leukocytes

1 reference

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

1 reference

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

1 reference

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

1 reference

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

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

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

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10.3109/13816819509056911

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