A novel U2HR non-synonymous mutation in a Chinese patient with Marie Unna Hereditary Hypotrichosis

J Dermatol Sci. 2009 Aug;55(2):125-7. doi: 10.1016/j.jdermsci.2009.04.009. Epub 2009 Jun 18.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • 5' Untranslated Regions
  • Asian People / genetics*
  • China
  • DNA Mutational Analysis
  • Genetic Predisposition to Disease
  • Humans
  • Hypotrichosis / ethnology
  • Hypotrichosis / genetics*
  • Hypotrichosis / pathology
  • Male
  • Mutation, Missense*
  • Open Reading Frames
  • Phenotype
  • Transcription Factors / genetics*
  • Young Adult

Substances

  • 5' Untranslated Regions
  • HR protein, human
  • Transcription Factors