Next generation sequencing identified novel heterozygous nonsense mutation in CNGB1 gene associated with retinitis pigmentosa in a Chinese patient

Retinitis pigmentosa (RP) is a severe hereditary eye disease characterized by progressive degeneration of photoreceptors and subsequent loss of vision. Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous group of retinal diseases. Germline mutations of CNGB1 is associated with re...

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Detalles Bibliográficos
Autores principales: Banerjee, Santasree, Yao, Junping, Zhang, Xinxin, Niu, Jianjun, Chen, Zhongshan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Impact Journals LLC 2017
Materias:
Research Paper: Pathology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5687609/
https://www.ncbi.nlm.nih.gov/pubmed/29179439
http://dx.doi.org/10.18632/oncotarget.21728

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5687609/
https://www.ncbi.nlm.nih.gov/pubmed/29179439
http://dx.doi.org/10.18632/oncotarget.21728

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