Open AccessCLEC3B is a novel causative gene for macular-retinal dystrophy
Author(s) -
Rong Zhou,
Go Mawatari,
XueBi Cai,
RenJuan Shen,
Ya-Han Wang,
Yating Wang,
Yiming Guo,
Fei-Yang Guo,
Jing Yuan,
Deng Pan,
Nobuhisa Naoi,
ZiBing Jin
Publication year - 2022
Publication title -
genetics in medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.509
H-Index - 128
eISSN - 1530-0366
pISSN - 1098-3600
DOI - 10.1016/j.gim.2022.02.012
Subject(s) - retinal , macular degeneration , dystrophy , medicine , exome sequencing , retinitis pigmentosa , retina , retinal degeneration , genetics , ophthalmology , biology , phenotype , gene , pathology , neuroscience
Macular degeneration is the leading cause of blindness worldwide. In this study, we aimed to define a new subtype of macular-retinal dystrophy and its genetic predisposition in 5 families.
Accelerating Research
Robert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom
Address
John Eccles HouseRobert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom