Article
Targeted Next-Generation Sequencing Reveals Novel RP1 Mutations in Autosomal Recessive Retinitis Pigmentosa.
Genetic testing and molecular biomarkers - 1 Feb 2018
Li Shujin, Yang Mu, Liu Wenjing, Liu Yuqing, Zhang Lin, Yang Yeming, Sundaresan Periasamy, Yang Zhenglin, Zhu Xianjun
Abstract excerpt
BACKGROUND: Retinitis pigmentosa (RP) is a group of rare inherited retinal dystrophies that result in a progressive loss of vision. Molecular diagnosis of RP is difficult due to its phenotypic and genetic heterogeneities. AIMS: To investigate causative genetic mutations in a collection of RP cases: one Indian and two Chinese families with autosomal-recessive RP and two sporadic patients with RP. MATERIALS AND...
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