title: Detection rate of pathogenic mutations in ABCA4 using direct sequencing: clinical and research implications.
authors.forename: Susan M
authors.initials: SM
authors.lastname: Downes
authors.forename: Emily
authors.initials: E
authors.lastname: Packham
authors.forename: Treena
authors.initials: T
authors.lastname: Cranston
authors.forename: Penny
authors.initials: P
authors.lastname: Clouston
authors.forename: Anneke
authors.initials: A
authors.lastname: Seller
authors.forename: Andrea H
authors.initials: AH
authors.lastname: Németh
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics* / Q000378:metabolism; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods*; D020022:Genetic Predisposition to Disease; D006801:Humans; D009154:Mutation; D010641:Phenotype; D012174:Retinitis Pigmentosa / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D012374:Rod Cell Outer Segment / Q000378:metabolism / Q000473:pathology
chemical_list: C056475:ABCA4 protein, human; D018528:ATP-Binding Cassette Transporters; D004247:DNA