Open AccessCharacterization of PROM1 p.Arg373Cys Variant in a Cohort of Chinese Patients: Macular Dystrophy Plus Peripheral Bone-Spicule Degeneration
Author(s) -
Yingwei Wang,
Panfeng Wang,
Shiqiang Li,
Jiamin Ouyang,
Xiaoyun Jia,
Xueshan Xiao,
Junfeng Yang,
Xueqing Li,
Wenmin Sun,
Qingjiong Zhang
Publication year - 2021
Publication title -
investigative ophthalmology and visual science
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.935
H-Index - 218
eISSN - 1552-5783
pISSN - 0146-0404
DOI - 10.1167/iovs.62.6.19
Subject(s) - retinitis pigmentosa , fundus (uterus) , stargardt disease , medicine , abca4 , macular degeneration , ophthalmology , dystrophy , retinal degeneration , electroretinography , macular dystrophy , sanger sequencing , pathology , retinal , phenotype , genetics , biology , mutation , gene