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*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-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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