Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR.
Martínez-Mir
A
A
Paloma
E
E
Allikmets
R
R
Ayuso
C
C
del Rio
T
T
Dean
M
M
Vilageliu
L
L
Gonzàlez-Duarte
R
R
Balcells
S
S
D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation; D005808:Genes, Recessive; D006720:Homozygote; D006801:Humans; D008268:Macular Degeneration / Q000235:genetics; D008297:Male; D010375:Pedigree; D012174:Retinitis Pigmentosa / Q000235:genetics*
C056475:ABCA4 protein, human; D018528:ATP-Binding Cassette Transporters