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

25 Aug 2017

Abstract excerpt

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 nonsyndromic eye diseases with next-generation sequencing (NGS)-based target capture sequencing of the proband of a four-generation Chinese family that...

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PMID: 28890726
DOI: 10.3389/fgene.2017.00107

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