Detecting genetic variations in hereditary retinal dystrophies with next-generation sequencing technology

PURPOSE: To identify pathogenic mutations responsible for retinal dystrophies (RDs) in three unrelated Chinese families. METHODS: Three probands from unrelated families with RDs were recruited. Genomic DNA prepared from leukocytes was analyzed using gene chip–based next-generation sequencing (NGS) t...

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Detalles Bibliográficos
Autores principales: Jin, Xin, Qu, Ling Hui, Meng, Xiao Hong, Xu, Hai Wei, Yin, Zheng Qin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4000715/
https://www.ncbi.nlm.nih.gov/pubmed/24791140

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