Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa.

doi:10.1056/NEJM199011083231903

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Article

Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa.

The New England journal of medicine - 8 Nov 1990

Dryja T P, McGee T L, Hahn L B, Cowley G S, Olsson J E, Reichel E, Sandberg M A, Berson E L

Abstract excerpt

BACKGROUND: Night blindness is an early symptom of retinitis pigmentosa. The rod photoreceptors are responsible for night vision and use rhodopsin as the photosensitive pigment. METHODS AND RESULTS: We found three mutations in the human rhodopsin gene; each occurred exclusively in the affected me...

Topics

Base Sequence
Codon
Electroretinography
Genes, Dominant
Humans
Molecular Sequence Data
Mutation
Retinitis Pigmentosa
Rhodopsin

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