Novel variants of ABCA4 in Han Chinese families with Stargardt disease

• Main Authors: Fang-Yuan Hu (Author), Feng-Juan Gao (Author), Jian-kang Li (Author), Ping Xu (Author), Dan-Dan Wang (Author), Sheng-Hai Zhang (Author), Ji-Hong Wu (Author)
• Format: Book
• Published: BMC, 2020-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Stargardt disease (STGD1) is a common recessive hereditary macular dystrophy in early adulthood or childhood, with an estimated prevalence of 1:8000 to 1:10,000. ABCA4 is the causative gene for STGD1. The current study aims at identifying the novel disease-related ABCA4 variants...