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

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: Genom...

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Detalles Bibliográficos
Autores principales: Al-Barry, Ma’an Abdullah, Albalawi, Alia M, Sayf, Mohammed Abu, Badawi, Abdulrahman, Afzal, Sibtain, Latif, Muhammad, Samman, Mohammed I., Basit, Sulman
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5050582/
https://www.ncbi.nlm.nih.gov/pubmed/27716192
http://dx.doi.org/10.1186/s12886-016-0354-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5050582/
https://www.ncbi.nlm.nih.gov/pubmed/27716192
http://dx.doi.org/10.1186/s12886-016-0354-6

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