A missense mutation in the type II hair keratin hHb3 is associated with monilethrix

J Med Genet. 2005 Mar;42(3):e19. doi: 10.1136/jmg.2004.021030.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Alopecia / genetics*
  • Child
  • Child, Preschool
  • DNA Mutational Analysis
  • Female
  • Genetic Testing
  • Genotype
  • Heterozygote
  • Humans
  • Keratins / chemistry
  • Keratins / genetics*
  • Keratins, Hair-Specific
  • Keratins, Type II
  • Mutation, Missense*
  • Polymorphism, Genetic

Substances

  • KRT81 protein, human
  • KRT83 protein, human
  • KRT86 protein, human
  • Keratins, Hair-Specific
  • Keratins, Type II
  • Keratins