Open AccessIdentification and Functional Characterization ofST3GAL5andST8SIA1Variants in Patients with Thyroid-Associated Ophthalmopathy
Author(s) -
Hyojin Park,
Ju Hee Kim,
Jin Sook Yoon,
Yang Ji Choi,
Yoon Hee Choi,
Koung Hoon Kook,
Ji Ha Choi
Publication year - 2017
Publication title -
yonsei medical journal/yonsei medical journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.702
H-Index - 63
eISSN - 1976-2437
pISSN - 0513-5796
DOI - 10.3349/ymj.2017.58.6.1160
Subject(s) - haplotype , nonsynonymous substitution , promoter , genetics , gene , biology , genotype , phenotype , genetic variants , transcription factor , gene expression , genome
This study was conducted to identify and to functionally characterize genetic variants in ST3GAL5 and ST8SIA1 in Korean patients with thyroid-associated ophthalmopathy (TAO).