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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Front Genet
Egile Nagusiak: 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
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Frontiers Media S.A. 2017
Gaiak:
Genetics
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC5574873/
https://ncbi.nlm.nih.gov/pubmed/28890726
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2017.00107
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