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Front Genet. 2017 Aug 25;8:107. doi: 10.3389/fgene.2017.00107. eCollection 2017.

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

Frontiers in genetics

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

Affiliations

  1. Eye Institute, Eye and ENT Hospital, College of Medicine, Fudan UniversityShanghai, China.
  2. Shanghai Key Laboratory of Visual Impairment and Restoration, Science and Technology Commission of Shanghai MunicipalityShanghai, China.
  3. Key Laboratory of Myopia, Ministry of HealthShanghai, China.

PMID: 28890726 PMCID: PMC5574873 DOI: 10.3389/fgene.2017.00107

[No abstract available.]

Keywords: ABCA4; RP1L1; gene mutations; molecular diagnosis; occult macular dystrophy

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