Quansheng Xi Lin Li Elias I Traboulsi Qing Kenneth Wang
Mol Vis
2009;15:638-45.
CC BY
https://pubmed.ncbi.nlm.nih.gov/19352439/
ATP-Binding Cassette Transporters / genetics Point Mutation Retinitis Pigmentosa / genetics
ATP-Binding Cassette Transporters / genetics Point Mutation Retinitis Pigmentosa / genetics Case Reports Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Adolescent Adult Aged Child Child, Preschool DNA Mutational Analysis Electroretinography Female Fluorescein Angiography Genes, Recessive Genome-Wide Association Study Heterozygote Humans Male Middle Aged Nystagmus, Pathologic Pedigree Photoreceptor Cells, Vertebrate / pathology Retinitis Pigmentosa / diagnosis Retinitis Pigmentosa / pathology Retinitis Pigmentosa / physiopathology Vision, Low ABCA4 protein, human ATP-Binding Cassette Transporters
PMC2665199
19352439
Novel ABCA4 compound heterozygous mutations cause severe progressive autosomal recessive cone-rod dystrophy presenting as Stargardt disease
2009