Mutations in known genes account for 58% of autosomal dominant retinitis pigmentosa (adRP).
Daiger
Stephen P
SP
Human Genetics Center, School of Public Health, and Dept. of Ophthalmology, The Univ. of Texas, Houston, TX, USA. stephen.p.daiger@uth.tmc.edu
Sullivan
Lori S
LS
Gire
Anisa I
AI
Birch
David G
DG
Heckenlively
John R
JR
Bowne
Sara J
SJ
D002874:Chromosome Mapping; D015331:Cohort Studies; D004252:DNA Mutational Analysis; D005260:Female; D017353:Gene Deletion; D018628:Gene Dosage; D005799:Genes, Dominant; D050172:Genes, X-Linked; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D008040:Genetic Linkage; D005820:Genetic Testing; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D000070780:Perilipin-2; D020641:Polymorphism, Single Nucleotide; D012174:Retinitis Pigmentosa / Q000235:genetics*; D017422:Sequence Analysis, DNA
D008565:Membrane Proteins; C000602982:PLIN2 protein, human; D000070780:Perilipin-2