Novel missense mutations of ABCB6 in two chinese families with dyschromatosis universalis hereditaria

J Dermatol Sci. 2014 Dec;76(3):255-8. doi: 10.1016/j.jdermsci.2014.08.015. Epub 2014 Sep 11.
No abstract available

Keywords: ABCB6; Dyschromatosis universalis hereditaria; Missense mutation.

Publication types

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

MeSH terms

  • ATP-Binding Cassette Transporters / genetics*
  • Adolescent
  • Asian People / genetics
  • Base Sequence
  • Child
  • Child, Preschool
  • China
  • DNA Mutational Analysis
  • Female
  • Genes, Dominant
  • Humans
  • Male
  • Mutation, Missense
  • Pedigree
  • Phenotype
  • Pigmentation Disorders / congenital*
  • Pigmentation Disorders / genetics
  • Pigmentation Disorders / pathology
  • Skin Diseases, Genetic / genetics*
  • Skin Diseases, Genetic / pathology

Substances

  • ABCB6 protein, human
  • ATP-Binding Cassette Transporters

Supplementary concepts

  • Dyschromatosis universalis hereditaria