Friedman, James S <br/><br/>
Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa.  [electronic resource] 

 -  American journal of human genetics  Jun 2009 
 - 792-800 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1537-6605 
<br/><br/><label>Standard No.: </label>10.1016/j.ajhg.2009.05.007  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Amino Acid Sequence<br/>Autoantigens--genetics<br/>Chromosomes, Human, Pair 7--genetics<br/>Enzyme-Linked Immunosorbent Assay<br/>Gene Expression Profiling<br/>Genes, Dominant<br/>Genetic Linkage<br/>Humans<br/>Immunoblotting<br/>Molecular Sequence Data<br/>Mutation, Missense--genetics<br/>Oligonucleotide Array Sequence Analysis<br/>Pedigree<br/>Polymorphism, Single Nucleotide--genetics<br/>Retinitis Pigmentosa--genetics<br/>Reverse Transcriptase Polymerase Chain Reaction<br/>Sequence Homology, Amino Acid