Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa.

Friedman, James S

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

Publication Type: Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't

1537-6605

10.1016/j.ajhg.2009.05.007 doi


Amino Acid Sequence
Autoantigens--genetics
Chromosomes, Human, Pair 7--genetics
Enzyme-Linked Immunosorbent Assay
Gene Expression Profiling
Genes, Dominant
Genetic Linkage
Humans
Immunoblotting
Molecular Sequence Data
Mutation, Missense--genetics
Oligonucleotide Array Sequence Analysis
Pedigree
Polymorphism, Single Nucleotide--genetics
Retinitis Pigmentosa--genetics
Reverse Transcriptase Polymerase Chain Reaction
Sequence Homology, Amino Acid