Whole exome sequencing in thai patients with retinitis pigmentosa reveals novel mutations in six genes

• Main Authors: Worapoj Jinda, Todd D. Taylor, Yutaka Suzuki, Wanna Thongnoppakhun, Chanin Limwongse, Patcharee Lertrit, Prapat Suriyaphol, Adisak Trinavarat, La Ongsri Atchaneeyasakul
• Other Authors: Mahidol University
• Format: Article
• Published: 2018
• Subjects: Medicine; Neuroscience
• Online Access: https://repository.li.mahidol.ac.th/handle/123456789/34253

Purpose. To identify disease-causing mutations and describe genotype-phenotype correlations in Thai patients with nonsyndromic retinitis pigmentosa (RP). Methods. Whole exome sequencing was performed in 20 unrelated patients. Eighty-six genes associated with RP, Leber congenital amaurosis, and cone-...