Disruption of conserved rhodopsin disulfide bond by Cys187Tyr mutation causes early and severe autosomal dominant retinitis pigmentosa.

doi:10.1016/s0161-6420(95)30972-4

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Article

Disruption of conserved rhodopsin disulfide bond by Cys187Tyr mutation causes early and severe autosomal dominant retinitis pigmentosa.

Ophthalmology - 1 Apr 1995

Richards J E, Scott K M, Sieving P A

Abstract excerpt

PURPOSE: To determine the molecular basis of an early and severe form of autosomal dominant retinitis pigmentosa and to characterize the associated phenotype. METHODS: Visual function evaluation included electrophysiologic and psychophysical testing. Molecular genetic analysis included determinin...

Topics

Adolescent
Adult
Amino Acid Sequence
Base Sequence
Child
Cysteine
DNA Primers
Dark Adaptation
Disulfides
Electroretinography
Female
Humans
Male
Middle Aged
Molecular Sequence Data
Pedigree
Phenotype
Point Mutation

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