Article
Sequence analysis of four vitamin D family genes (VDR, CYP24A1, CYP27B1 and CYP2R1) in Vogt-Koyanagi-Harada (VKH) patients: identification of a potentially pathogenic variant in CYP2R1.
BMC ophthalmology - 4 Oct 2016
Al-Barry Ma'an Abdullah, Albalawi Alia M, Sayf Mohammed Abu, Badawi Abdulrahman, Afzal Sibtain, Latif Muhammad, Samman Mohammed I, Basit Sulman
Abstract excerpt
BACKGROUND: VKH is a rare autoimmune disease. Decreased level of vitamin D has recently been found to be involved in the pathogenesis of Vogt-Koyanagi-Harada (VKH) disease. This study was designed to screen the vitamin D pathway genes for pathogenic mutations, if any, in VKH patients. METHODS: Genomic DNA was extracted from blood samples collected from patients with VKH disease and healthy controls. Entire coding...
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