TY  - GEN
AU  - Rodriguez,J A
AU  - Herrera,C A
AU  - Birch,D G
AU  - Daiger,S P
TI  - A leucine to arginine amino acid substitution at codon 46 of rhodopsin is responsible for a severe form of autosomal dominant retinitis pigmentosa
SN  - 1059-7794
PY  - 1993///1006
KW  - Adolescent
KW  - Adult
KW  - Amino Acid Sequence
KW  - Base Sequence
KW  - Child
KW  - Codon
KW  - genetics
KW  - DNA
KW  - chemistry
KW  - Electroretinography
KW  - Female
KW  - Genes, Dominant
KW  - Humans
KW  - Male
KW  - Middle Aged
KW  - Molecular Sequence Data
KW  - Nucleic Acid Conformation
KW  - Pedigree
KW  - Point Mutation
KW  - Polymorphism, Genetic
KW  - Retinitis Pigmentosa
KW  - Rhodopsin
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S
UR  - https://doi.org/10.1002/humu.1380020309
ER  -