Retinitis pigmentosa

Establishment and rapid detection of a heterozygous missense mutation in the CACNA1F gene by ARMS technique with double-base mismatched primers

W. C. Yang, Zhu, L., Zhou, B. X., Tania, S., Zhou, Q., Khan, M. A., Fu, X. L., Cheng, J. L., Lv, H. B., and Fu, J. J., Establishment and rapid detection of a heterozygous missense mutation in the CACNA1F gene by ARMS technique with double-base mismatched primers, vol. 14, pp. 11480-11487, 2015.

Retinitis pigmentosa (RP) is a retinal degenerative disorder that often causes complete blindness. Mutations of more than 50 genes have been identified as associated with RP, including the CACNA1F gene. In a recent study, by employing next-generation sequencing, we identified a novel mutation in the CACNA1F gene.

Subscribe to Retinitis pigmentosa