Genetic analyses of oculocutaneous albinism types 2 and 4 with eight novel mutations

J Dermatol Sci. 2016 Feb;81(2):140-2. doi: 10.1016/j.jdermsci.2015.10.014. Epub 2015 Oct 31.
No abstract available

Publication types

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

MeSH terms

  • Albinism, Oculocutaneous / diagnosis
  • Albinism, Oculocutaneous / ethnology
  • Albinism, Oculocutaneous / genetics*
  • Antigens, Neoplasm / genetics*
  • Asian People / genetics
  • Child, Preschool
  • DNA Mutational Analysis
  • Female
  • Genetic Association Studies
  • Genetic Markers
  • Genetic Predisposition to Disease
  • Humans
  • Infant
  • Japan
  • Male
  • Membrane Transport Proteins / genetics*
  • Mutation*
  • Phenotype

Substances

  • Antigens, Neoplasm
  • Genetic Markers
  • Membrane Transport Proteins
  • OCA2 protein, human
  • SLC45A2 protein, human

Supplementary concepts

  • Oculocutaneous Albinism, Type IV
  • Oculocutaneous albinism type 2