A leucine to arginine amino acid substitution at codon 46 of rhodopsin is responsible for a severe form of autosomal dominant retinitis pigmentosa. [electronic resource]
Producer: 19931006Description: 205-13 p. digitalISSN:- 1059-7794
- Adolescent
- Adult
- Amino Acid Sequence
- Base Sequence
- Child
- Codon -- genetics
- DNA -- chemistry
- Electroretinography
- Female
- Genes, Dominant
- Humans
- Male
- Middle Aged
- Molecular Sequence Data
- Nucleic Acid Conformation
- Pedigree
- Point Mutation
- Polymorphism, Genetic
- Retinitis Pigmentosa -- genetics
- Rhodopsin -- genetics
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
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