GUCA1A mutation causes maculopathy in a five-generation family with a wide spectrum of severity

Chen X, Sheng X, Zhuang W, Sun X, Liu G, Shi X, Huang G, Mei Y, Li Y, Pan X, Liu Y, Li Z, Zhao Q, Yan B, Zhao C. GUCA1A mutation causes maculopathy in a five-generation family with a wide spectrum of severity. Genet Med. 2017 Aug;19(8):945-954.