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.
Yzer
S
S
van den Born
L I
LI
Schuil
J
J
Kroes
H Y
HY
van Genderen
M M
MM
Boonstra
F N
FN
van den Helm
B
B
Brunner
H G
HG
Koenekoop
R K
RK
Cremers
F P M
FP
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
D002352:Carrier Proteins; D004247:DNA; D005136:Eye Proteins; D006639:Histidine; D011506:Proteins; D014443:Tyrosine; D019745:cis-trans-Isomerases; D000099178:Retinoid Isomerohydrolase