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

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

1990 • 1,032 citations

Molecular Genetics of Inherited Variation in Human Color Vision

1986 • 777 citations

Handbook of Clinical Neurology

1972 • 642 citations

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

1990 • 478 citations

Rhodopsin and bacteriorhodopsin: structure—function relationships

1982 • 430 citations

Molecular biology of the visual pigments

1986 • 335 citations

The structure of rhodopsin and the rod outer segment disk membrane

1983 • 248 citations

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

1989 • 241 citations

Rapid detection of single base mismatches as heteroduplexes on Hydrolink gels☆

1991 • 213 citations

Two forms of autosomal dominant primary retinitis pigmentosa

1981 • 202 citations

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

1985 • 148 citations

Role of the intradiscal domain in rhodopsin assembly and function.

1990 • 139 citations

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

1991 • 133 citations

Autosomal dominant retinitis pigmentosa: Linkage to rhodopsin and evidence for genetic heterogeneity

1990 • 125 citations

Transducin Activation by Rhodopsin Without a Covalent Bond to the 11- Cis -Retinal Chromophore

1991 • 114 citations

Rhodopsin in the rod outer segment plasma membrane.

1976 • 102 citations

A study of retinitis pigmentosa in the City of Birmingham. II Clinical and genetic heterogeneity.

1984 • 66 citations

Retinal Degenerations

2024 • 45 citations

The acylation of rat rhodopsin in vitro and in vivo

1986 • 42 citations

no evidence for linkage between late onset autosomal dominant retinitis pigmentosa and chromosome 3 locus D3S47 (C17): Evidence for genetic heterogeneity

1990 • 32 citations

Figures and fantasies: the frequencies of the different genetic forms of retinitis pigmentosa.

1982 • 28 citations

Linkage to D3S47 (C17) in one large autosomal dominant retinitis pigmentosa family and exclusion in another: confirmation of genetic heterogeneity.

1990 • 27 citations

Gene of type II autosomal dominant retinitis pigmentosa maps on the long arm of chromosome 3

1990 • 25 citations

Addition of the chromophore to rat rhodopsin is an early post-translational event

1989 • 15 citations

Further evidence of exclusion of linkage between type II autosomal dominant retinitis pigmentosa (ADRP) and D3S47 on 3q

1990 • 12 citations

No evidence of linkage between the locus for autosomal dominant retinitis pigmentosa and D3S47 (C17) in three Australian families

1991 • 8 citations