Novel variants of ABCA4 in Han Chinese families with Stargardt disease

• मुख्य लेखकों: Fang-Yuan Hu (लेखक), Feng-Juan Gao (लेखक), Jian-kang Li (लेखक), Ping Xu (लेखक), Dan-Dan Wang (लेखक), Sheng-Hai Zhang (लेखक), Ji-Hong Wu (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: BMC, 2020-10-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: 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...