Novel variants of ABCA4 in Han Chinese families with Stargardt disease.

Fang-Yuan HuFeng-Juan GaoJian-Kang LiPing XuDan-Dan WangSheng-Hai ZhangFeng-Juan Gao

Published in: BMC medical genetics (2020)

By panel-based NGS, 21 ABCA4 variants were confirmed in 12 unrelated Han Chinese families. Among them, 3 novel mutant variants were found, which further expanded the ABCA4 mutation spectrum in STGD1 patients.

Keyphrases

copy number
end stage renal disease
ejection fraction
chronic kidney disease
newly diagnosed
prognostic factors
gene expression
dna methylation
cord blood
patient reported outcomes