Rodriguez, J A <br/><br/>
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] 

 -  Human mutation  1993 
 - 205-13 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. 
<br/><br/><label>ISSN: </label>1059-7794 
<br/><br/><label>Standard No.: </label>10.1002/humu.1380020309  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Adult<br/>Amino Acid Sequence<br/>Base Sequence<br/>Child<br/>Codon--genetics<br/>DNA--chemistry<br/>Electroretinography<br/>Female<br/>Genes, Dominant<br/>Humans<br/>Male<br/>Middle Aged<br/>Molecular Sequence Data<br/>Nucleic Acid Conformation<br/>Pedigree<br/>Point Mutation<br/>Polymorphism, Genetic<br/>Retinitis Pigmentosa--genetics<br/>Rhodopsin--genetics