article_metadata: Maria Carolina Ortube Samuel P Strom Stanley F Nelson Steven Nusinowitz Ariadna Martinez Michael B Gorin
article_metadata: 10.1186/1471-2350-15-11
article_metadata: BMC Med Genet
article_metadata: 2014 Jan 20;15:11.
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/24444108/
article_metadata: ATP-Binding Cassette Transporters / genetics DNA Mutational Analysis Disease Progression Exome / genetics Homozygote Mutation, Missense Retinal Dystrophies / genetics
article_metadata: 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
article_metadata: PMC3905103
article_metadata: 24444108
article_metadata: Whole exome sequencing detects homozygosity for ABCA4 p.Arg602Trp missense mutation in a pediatric patient with rapidly progressive retinal dystrophy
article_metadata: 2014