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Diagnostic value of a combination of next-generation sequencing, chorioretinal imaging and metabolic analysis: lessons from a consanguineous Chinese family with gyrate atrophy of the choroid and retina stemming from a novel OAT variant

Authors

  1. Correspondence to Dr Junjiang Fu, Laboratory of Epigenetics and Oncology, Research Center for Preclinical Medicine, Southwest Medical University, Luzhou, Sichuan 646000, China; fujunjiang{at}hotmail.com; LiuLongqian, Department of Ophthalmology, West China Hospital, Sichuan University, Chengdu 15651, China; b.q15651{at}hotmail.com; Dr Rui Chen, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; ruichen{at}bcm.edu; Dr Hongbin Lv, Department of Ophthalmology, The Affiliated Hospital of Southwest Medical University, Luzhou 646000, China; oculistlvhongbin{at}163.com
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Citation

Huang J, Fu J, Fu S, et al
Diagnostic value of a combination of next-generation sequencing, chorioretinal imaging and metabolic analysis: lessons from a consanguineous Chinese family with gyrate atrophy of the choroid and retina stemming from a novel OAT variant

Publication history

  • Received April 10, 2018
  • Revised October 11, 2018
  • Accepted October 13, 2018
  • First published October 26, 2018.
Online issue publication 
February 21, 2019

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