A missense mutation in the P2RY5 gene leading to autosomal recessive woolly hair in a Syrian patient

J Dermatol Sci. 2010 Feb;57(2):132-4. doi: 10.1016/j.jdermsci.2009.10.015. Epub 2009 Nov 26.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, N.I.H., Extramural

MeSH terms

  • Adolescent
  • Amino Acid Sequence
  • Amino Acid Substitution
  • Asparagine
  • Aspartic Acid
  • Genes, Recessive*
  • Hair Diseases / genetics*
  • Hair Diseases / pathology
  • Homozygote
  • Humans
  • Molecular Sequence Data
  • Mutation, Missense*
  • Receptors, Purinergic P2 / genetics*
  • Syria

Substances

  • LPAR4 protein, human
  • Receptors, Purinergic P2
  • Aspartic Acid
  • Asparagine