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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Detalles Bibliográficos
Autores principales: Liu, Song, Bi, Jian Gang, Hu, Yunlong, Tang, Donge, Li, Bo, Zhu, Peng, Peng, Wujian, Du, Dong, He, Huiyan, Zeng, Jun, Dai, Yong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6465654/
https://www.ncbi.nlm.nih.gov/pubmed/30790467
http://dx.doi.org/10.1002/mgg3.577

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