RPE65 and retinal dystrophy: Report of new and recurrent mutations

Safari, S; Zare-Abdollahi, D; Bushehri, A; Safari, MR; Dehghani, A; Tahmasebi, Z; Khorshid, HRK; Ghadanni, M

Zare-Abdollahi, D (corresponding author), Univ Social Welf & Rehabil Sci, Genet Res Ctr, Kodakyar St,Daneshjoo Blv, Tehran 1987513834, Iran.; Ghadanni, M (corresponding author), Univ Tehran Med Sci, Dept Med Genet, Sch Med, Int Relat Off,Med Sch, PourSina St, Tehran 1417613151, Iran.

JOURNAL OF GENE MEDICINE, 2020; 22 (3):

Abstract

Bachground Leber congenital amaurosis (LCA) is a severe and congenital or early onset form of inherited retinitis pigmentosa (RP). To date, approximat......

Full Text Link