title: A Tyr368His RPE65 founder mutation is associated with variable expression and progression of early onset retinal dystrophy in 10 families of a genetically isolated population.
authors.forename: S
authors.initials: S
authors.lastname: Yzer
authors.forename: L I
authors.initials: LI
authors.lastname: van den Born
authors.forename: J
authors.initials: J
authors.lastname: Schuil
authors.forename: H Y
authors.initials: HY
authors.lastname: Kroes
authors.forename: M M
authors.initials: MM
authors.lastname: van Genderen
authors.forename: F N
authors.initials: FN
authors.lastname: Boonstra
authors.forename: B
authors.initials: B
authors.lastname: van den Helm
authors.forename: H G
authors.initials: HG
authors.lastname: Brunner
authors.forename: R K
authors.initials: RK
authors.lastname: Koenekoop
authors.forename: F P M
authors.initials: FP
authors.lastname: Cremers
mesh_terms: D019943:Amino Acid Substitution; D002352:Carrier Proteins; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D018450:Disease Progression; D005136:Eye Proteins; D005192:Family Health; D005260:Female; D018703:Founder Effect; D014644:Genetic Variation; D006579:Heterozygote; D006639:Histidine / Q000235:genetics; D006720:Homozygote; D006801:Humans; D008297:Male; D009154:Mutation; D009426:Netherlands; D010375:Pedigree; D011506:Proteins / Q000235:genetics*; D012162:Retinal Degeneration / Q000235:genetics* / Q000473:pathology; D014443:Tyrosine / Q000235:genetics; D019745:cis-trans-Isomerases; D000099178:Retinoid Isomerohydrolase
chemical_list: D002352:Carrier Proteins; D004247:DNA; D005136:Eye Proteins; D006639:Histidine; D011506:Proteins; D014443:Tyrosine; D019745:cis-trans-Isomerases; D000099178:Retinoid Isomerohydrolase