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

Primer-Directed Enzymatic Amplification of DNA with a Thermostable DNA Polymerase

1988 • 17,059 citations

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

An intronless gene encoding a potential member of the family of receptors coupled to guanine nucleotide regulatory proteins

1987 • 509 citations

Molecular biology of the visual pigments

1986 • 335 citations

[10] 5′-32P labeling of RNA and DNA restriction fragments

1980 • 251 citations

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

1989 • 241 citations

Detection of DNA sequence polymorphisms by enzymatic amplification and direct genomic sequencing.

1989 • 166 citations

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

1985 • 148 citations

Hypervariable minisatellites: recombinators or innocent bystanders?

1989 • 118 citations

Retinitis pigmentosa

1976 • 115 citations

Rod sensitivity relative to cone sensitivity in retinitis pigmentosa.

1979 • 115 citations

Dominant Retinitis Pigmentosa With Reduced Penetrance

1969 • 112 citations

Prolonged rod dark adaptation in retinitis pigmentosa.

1984 • 73 citations

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

1984 • 66 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

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

1990 • 27 citations

The gene for retinal S-antigen (48-kDa protein) maps to the centromeric portion of mouse chromosome 1 near idh-1

1989 • 27 citations

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

1990 • 25 citations

The Relation of Rhodopsin and Scotopic Retinal Sensitivity in Sector Retinitis Pigmentosa

1988 • 22 citations