A novel mutation of PANK4 causes autosomal dominant congenital posterior cataract

Min Sun, Chunlin Chen, Shengping Hou, Xue Li, Huan Wang, Jiaxing Zhou, Xi Chen, Pei Liu, Aize Kijlstra, Sen Lin, Jian Ye

Research output: Contribution to journal › Article › Academic › peer-review

Original languageEnglish
Pages (from-to)380-391
Number of pages12
JournalHuman Mutation
Volume40
Issue number4
DOIs
Publication statusPublished - Apr 2019

Keywords

  • apoptosis
  • autosomal dominant congenital cataract
  • lens epithelial cell
  • linkage analysis
  • PANK4
  • whole-exome sequencing
  • COENZYME-A
  • KINASE
  • VARIANT
  • NEURODEGENERATION
  • AGGREGATION
  • FRAMEWORK
  • GENETICS
  • PATIENT
  • GLUCOSE
  • RETINA

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Cite this

Sun, M., Chen, C., Hou, S., Li, X., Wang, H., Zhou, J., Chen, X., Liu, P., Kijlstra, A., Lin, S., & Ye, J. (2019). A novel mutation of PANK4 causes autosomal dominant congenital posterior cataract. Human Mutation, 40(4), 380-391. https://doi.org/10.1002/humu.23696