Targeted next generation sequencing identified novel loss‐of‐function mutations in MERTK gene in Chinese patients with retinitis pigmentosa

BACKGROUND: Retinitis pigmentosa (RP) is one of the major types of hereditary retinal dystrophies with extreme genotypic heterogeneity. To date, more than 80 genes have been identified to be associated with RP in human. METHOD: Here, we presented a clinical genetic study of three Chinese man manifes...

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Bibliografiske detaljer
Udgivet i:Mol Genet Genomic Med
Main Authors: Liu, Song, Bi, Jian Gang, Hu, Yunlong, Tang, Donge, Li, Bo, Zhu, Peng, Peng, Wujian, Du, Dong, He, Huiyan, Zeng, Jun, Dai, Yong
Format: Artigo
Sprog:Inglês
Udgivet: John Wiley and Sons Inc. 2019
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Original Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6465654/
https://ncbi.nlm.nih.gov/pubmed/30790467
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.577
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