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Rep1 copy number variation is an important genetic cause of choroideremia in Chinese patients

  • Published:2017-11 Issue: Volume:164 Page:64-73
  • ISSN:0014-4835
  • Container-title:Experimental Eye Research
  • language:en
  • Short-container-title:Experimental Eye Research

Author:

Zhou Qi,Yao Fengxia,Han Xiaoxu,Li HuiORCID,Yang Lizhu,Sui Ruifang

Funder

National Natural Science Foundation of China

Beijing Natural Science Foundation

Foundation Fighting Blindness USA

Scientific Research Foundation of the State Human Resource Ministry

Publisher

Elsevier BV

Subject

Cellular and Molecular Neuroscience,Sensory Systems,Ophthalmology

Reference10 articles.

1. Copy number variant analysis in CHM to detect duplications underlying choroideremia;Chi;Ophthalmic Genet.,2013

2. Completing the map of human genetic variation;Eichler;Nature,2007

3. Structural variation in the human genome;Feuk;Nat. Rev. Genet.,2006

4. Choroideremia, GeneReviews® [Internet];MacDonald,2003

5. Mutational analysis of patients with the diagnosis of choroideremia;McTaggart;Hum. Mutat.,2002

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