Evidence against a second autosomal dominant retinitis pigmentosa locus close to rhodopsin on chromosome 3q.
1993
C Inglehearn, and
J Farrar, and
M Denton, and
A Gal, and
P Humphries, and
S Bhattacharya
UI
MeSH Term
Description
Entries
D009154
Mutation
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
Mutations
D002893
Chromosomes, Human, Pair 3
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
Chromosome 3
D005799
Genes, Dominant
Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.
Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D012174
Retinitis Pigmentosa
Hereditary, progressive degeneration of the retina due to death of ROD PHOTORECEPTORS initially and subsequent death of CONE PHOTORECEPTORS. It is characterized by deposition of pigment in the retina.
A purplish-red, light-sensitive pigment found in RETINAL ROD CELLS of most vertebrates. It is a complex consisting of a molecule of ROD OPSIN and a molecule of 11-cis retinal (RETINALDEHYDE). Rhodopsin exhibits peak absorption wavelength at about 500 nm.
Visual Purple
Related Publications
C Inglehearn, and
J Farrar, and
M Denton, and
A Gal, and
P Humphries, and
S Bhattacharya