Open AccessNovel TRPM1 mutations in two Chinese families with early-onset high myopia, with or without complete congenital stationary night blindness
Author(s) -
Lin Zhou,
Tuo Li,
Yiqiao Xing,
Yin Li,
Qingsong Wu,
Mao-Ju Zhang
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.2016.10.05
Subject(s) - proband , missense mutation , sanger sequencing , medicine , genetics , compound heterozygosity , mutation , genetic testing , family history , exon , pediatrics , ophthalmology , gene , biology
To investigate the relationship between high myopia [with or without complete congenital stationary night blindness (CSNB1)] and TRPM1 and NYX .