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

Data up to Jan 2025

Published1991
Citations460
References17

Total Citations Per Year

Abstract

References (17)

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

1989 • 3,557 citations

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

1990 • 1,032 citations

Mutations within the Rhodopsin Gene in Patients with Autosomal Dominant Retinitis Pigmentosa

1990 • 478 citations

Rhodopsin mutations in autosomal dominant retinitis pigmentosa.

1991 • 455 citations

Identification of a photoreceptor-specific mRNA encoded by the gene responsible for retinal degeneration slow (rds)

1989 • 399 citations

The retinal degeneration slow (rds) gene product is a photoreceptor disc membrane-associated glycoprotein

1991 • 322 citations

Photoreceptor peripherin is the normal product of the gene responsible for retinal degeneration in the rds mouse.

1991 • 284 citations

Development and degeneration of retina in rds mutant mice: Light microscopy

1980 • 238 citations

A New H‐2‐Linked Mutation, rds, Causing Retinal Degeneration in the Mouse

1978 • 192 citations

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

1991 • 166 citations

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

1990 • 162 citations

Identification of novel rhodopsin mutations associated with retinitis pigmentosa by GC-clamped denaturing gradient gel electrophoresis.

1991 • 140 citations

The human retinal degeneration slow (RDS) gene: Chromosome assignment and structure of the mRNA

1991 • 139 citations

A 3-bp deletion in the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa.

1991 • 133 citations

An Electroretinographic and Molecular Genetic Study of X-Linked Cone Degeneration

1989 • 106 citations

Some cytological and initial biochemical observations on photoreceptors in retinas of rds mice.

1983 • 95 citations

Nucleotide and predicted protien sequence of rat retinal degeneration slow (rds)

1990 • 31 citations

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Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis… (1991) – Nature | Metascience Observatory Explorer