Mutations in DZIP1 and XYLT1 are associated with nonsyndromic early onset high myopia in the Korean population

Ophthalmic Genet. 2017 Jul-Aug;38(4):395-397. doi: 10.1080/13816810.2016.1232415. Epub 2017 Jan 13.
No abstract available

Publication types

  • Letter

MeSH terms

  • Adaptor Proteins, Signal Transducing / genetics*
  • Amino Acid Sequence
  • Asian People / genetics
  • Child, Preschool
  • DNA Mutational Analysis
  • Exome Sequencing
  • Female
  • Humans
  • Infant
  • Male
  • Molecular Sequence Data
  • Mutation, Missense*
  • Myopia, Degenerative / diagnosis
  • Myopia, Degenerative / genetics*
  • Pentosyltransferases / genetics*
  • Republic of Korea / epidemiology
  • Siblings
  • UDP Xylose-Protein Xylosyltransferase

Substances

  • Adaptor Proteins, Signal Transducing
  • DZIP1 protein, human
  • Pentosyltransferases