2015•Journal of Human GeneticsRequires access

Whole-exome sequencing reveals a novel frameshift mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in the Indian population

Yu Zhou, Bibhuti Ballav Saikia, Zhilin Jiang, Xiong Zhu, Xiong Zhu, Yuqing Liu, Lulin Huang, Kim Ramasamy, Yin Yang, Chao Qu, Hao Fang, Bo Gong, Zhengfu Tai, Lihong Niu, Zhenglin Yang, Periasamy Sundaresan, Xianjun Zhu, Xianjun Zhu

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Key concepts: Frameshift mutation, Sanger sequencing, Genetics, Exome sequencing, Biology, Retinitis pigmentosa, Mutation, Genetic heterogeneity