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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 next...

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Principais autores: Yu-He Qi, Feng-Juan Gao, Fang-Yuan Hu, Sheng-Hai Zhang, Jun-Yi Chen, Wan-Jing Huang, Guo-Hong Tian, Min Wang, De-Kang Gan, Ji-Hong Wu, Ge-Zhi Xu
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2017-08-01
coleção:Frontiers in Genetics
Assuntos:
occult macular dystrophy
gene mutations
molecular diagnosis
ABCA4
RP1L1
Acesso em linha:http://journal.frontiersin.org/article/10.3389/fgene.2017.00107/full
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