Article
Ocular findings in patients with autosomal dominant retinitis pigmentosa and rhodopsin, proline-347-leucine.
American journal of ophthalmology - 15 May 1991
Berson E L, Rosner B, Sandberg M A, Weigel-DiFranco C, Dryja T P
Abstract excerpt
We studied the ocular findings in eight unrelated patients with a form of autosomal dominant retinitis pigmentosa and the same cytosine-to-thymine transition in the second nucleotide of codon 347 of the rhodopsin gene. This mutation, detected in leukocyte DNA, corresponds to a substitution of leu...
Topics
- Adolescent
- Adult
- Amino Acid Sequence
- Chromosome Aberrations
- Chromosome Disorders
- Dark Adaptation
- Electroretinography
- Female
- Fundus Oculi
- Humans
- Leucine
- Male
- Middle Aged
- Molecular Sequence Data
- Mutation
- Night Blindness
- Pedigree
- Proline