Maria Carolina Ortube Samuel P Strom Stanley F Nelson Steven Nusinowitz Ariadna Martinez Michael B Gorin
10.1186/1471-2350-15-11
BMC Med Genet
2014 Jan 20;15:11.
CC BY
https://pubmed.ncbi.nlm.nih.gov/24444108/
ATP-Binding Cassette Transporters / genetics DNA Mutational Analysis Disease Progression Exome / genetics Homozygote Mutation, Missense Retinal Dystrophies / genetics
ATP-Binding Cassette Transporters / genetics DNA Mutational Analysis Disease Progression Exome / genetics Homozygote Mutation, Missense Retinal Dystrophies / genetics Case Reports Research Support, Non-U.S. Gov't Child Female Humans Male Phenotype Retinal Dystrophies / diagnosis Retinal Dystrophies / pathology Retinal Dystrophies / physiopathology ABCA4 protein, human ATP-Binding Cassette Transporters
PMC3905103
24444108
Whole exome sequencing detects homozygosity for ABCA4 p.Arg602Trp missense mutation in a pediatric patient with rapidly progressive retinal dystrophy
2014