Open AccessA novel mutation of p.F32I in GJA8 in human dominant congenital cataracts
Author(s) -
Feng-Tao Dang,
Fayu Yang,
Yeqin Yang,
Xianglian Ge,
Chen Ding,
Liu Zhang,
Xinping Yu,
Feng Gu,
Jinyuan Chen
Publication year - 2016
Publication title -
international journal of ophthalmology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.634
H-Index - 29
eISSN - 2227-4898
pISSN - 2222-3959
DOI - 10.18240/ijo.2016.11.05
Subject(s) - mutant , mutation , gene , polymerase chain reaction , recombinant dna , cataracts , medicine , microbiology and biotechnology , genetics , biology , wild type , plasmid
To identify a causative mutation in a three-generation family with autosomal dominant congenital total cataract and dissect the molecular consequence of the identified mutation.