Targeted Next-Generation Sequencing Reveals Novel RP1 Mutations in Autosomal Recessive Retinitis Pigmentosa-Reference-Cited by-同舟云学术

Targeted Next-Generation Sequencing Reveals Novel RP1 Mutations in Autosomal Recessive Retinitis Pigmentosa

Published:2018-02 Issue:2 Volume:22 Page:109-114
ISSN:1945-0265
Container-title:Genetic Testing and Molecular Biomarkers
language:en
Short-container-title:Genetic Testing and Molecular Biomarkers

Author:

Li Shujin¹²³,Yang Mu¹²³,Liu Wenjing²,Liu Yuqing²,Zhang Lin²,Yang Yeming²,Sundaresan Periasamy⁴,Yang Zhenglin¹²,Zhu Xianjun²⁵⁶

Affiliation:

1. Chengdu Institute of Biology, Chinese Academy of Sciences, Chengdu, P.R. China.

2. Sichuan Provincial Key Laboratory for Human Disease Gene Study, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, Sichuan, P.R. China.

3. University of Chinese Academy of Sciences, Beijing, P.R. China.

4. Department of Genetics, Aravind Medical Research Foundation, Aravind Eye Hospital, Madurai, Tamilnadu, India.

5. Institute of Laboratory Animal Sciences, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, Chengdu, Sichuan, P.R. China.

6. Department of Laboratory Medicine, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, Sichuan Translational Medicine Research Hospital, Chengdu, Sichuan, P.R. China.

Publisher

Mary Ann Liebert Inc

Subject

Genetics(clinical),General Medicine

Link

http://www.liebertpub.com/doi/pdf/10.1089/gtmb.2017.0223

Reference28 articles.

1. RP1 and autosomal dominant rod-cone dystrophy: Novel mutations, a review of published variants, and genotype-phenotype correlation

2. Identification of an RP1 Prevalent Founder Mutation and Related Phenotype in Spanish Patients with Early-Onset Autosomal Recessive Retinitis

3. RP1 in Chinese: Eight novel variants and evidence that truncation of the extreme C-terminal does not cause retinitis pigmentosa

4. The molecular basis of human retinal and vitreoretinal diseases

5. MACULAR HOLE IN A YOUNG PATIENT AFFECTED BY FAMILIAL EXUDATIVE VITREORETINOPATHY

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