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Next-generation sequencing-based clinical diagnosis of choroideremia and comprehensive mutational and clinical analyses.

Feng-Juan GaoGuo-Hong TianFang-Yuan HuDan-Dan WangJian-Kang LiQing ChangFang ChenGe-Zhi XuWei LiuFeng-Juan Gao
Published in: BMC ophthalmology (2020)
We provide a detailed description of the genotypes and phenotypes of seven patients with choroideremia who were accurately diagnosed using NGS. These findings provide a better understanding of the genetics and phenotypes of choroideremia.
Keyphrases
  • copy number
  • dna methylation
  • genome wide
  • circulating tumor