Winston Lee Yajing Xie Jana Zernant Bo Yuan Srilaxmi Bearelly Stephen H Tsang James R Lupski Rando Allikmets
10.1007/s00439-015-1605-y
Hum Genet
2016 Jan;135(1):9-19.
author_manuscript
https://pubmed.ncbi.nlm.nih.gov/26527198/
ATP-Binding Cassette Transporters / genetics Macula Lutea / pathology Macular Degeneration / congenital Mutation Phenotype
ATP-Binding Cassette Transporters / genetics Macula Lutea / pathology Macular Degeneration / congenital Mutation Phenotype Case Reports Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Adult Aged Comparative Genomic Hybridization DNA Copy Number Variations Electroretinography Female High-Throughput Nucleotide Sequencing Humans Macular Degeneration / genetics Macular Degeneration / physiopathology Male Middle Aged Pedigree Stargardt Disease ABCA4 protein, human ATP-Binding Cassette Transporters Stargardt disease 1
PMC4699863
26527198
Complex inheritance of ABCA4 disease: four mutations in a family with multiple macular phenotypes
2016