Next-Generation Sequencing-Aided Rapid Molecular Diagnosis of Occult Macular Dystrophy in a Chinese Family

Purpose: To show early, rapid and accurate molecular diagnosis of occult macular dystrophy (OMD) in a four-generation Chinese family with inherited macular dystrophy. Methods: In the current study, we comprehensively screened 130 genes involved in common inherited non-syndromic eye diseases with nex...

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Detalles Bibliográficos
Autores principales: Qi, Yu-He, Gao, Feng-Juan, Hu, Fang-Yuan, Zhang, Sheng-Hai, Chen, Jun-Yi, Huang, Wan-Jing, Tian, Guo-Hong, Wang, Min, Gan, De-Kang, Wu, Ji-Hong, Xu, Ge-Zhi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2017
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5574873/
https://www.ncbi.nlm.nih.gov/pubmed/28890726
http://dx.doi.org/10.3389/fgene.2017.00107

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5574873/
https://www.ncbi.nlm.nih.gov/pubmed/28890726
http://dx.doi.org/10.3389/fgene.2017.00107

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