Jianping Zhang Anhui Qi Xi Wang Hong Pan Haiming Mo Jiwei Huang Honghui Li Zhenwen Chen Meirong Wei Binbin Wang
Mol Vis
2016 Dec 30;22:1514-1521.
CC BY-NC-ND
https://pubmed.ncbi.nlm.nih.gov/28050124/
ATP-Binding Cassette Transporters / genetics Asian People / genetics Macular Degeneration / congenital Mutation / genetics Pedigree
ATP-Binding Cassette Transporters / genetics Asian People / genetics Macular Degeneration / congenital Mutation / genetics Pedigree Case Reports Adult Chromosome Segregation Exome Sequencing Female Genetic Association Studies Heterozygote Humans Macular Degeneration / genetics Male Stargardt Disease ABCA4 protein, human ATP-Binding Cassette Transporters
PMC5204459
28050124
Novel compound heterozygous mutations in ABCA4 in a Chinese pedigree with Stargardt disease
2016