The H syndrome: two novel mutations affecting the same amino acid residue of hENT3

J Dermatol Sci. 2010 Jan;57(1):59-61. doi: 10.1016/j.jdermsci.2009.09.011. Epub 2009 Nov 3.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Adult
  • Amino Acids / chemistry
  • Base Sequence
  • Humans
  • Male
  • Molecular Sequence Data
  • Mutation*
  • Nucleoside Transport Proteins / genetics*
  • Pedigree
  • Pigmentation
  • Sequence Analysis, DNA
  • Sequence Homology, Nucleic Acid
  • Skin Diseases / genetics*
  • Skin Diseases / pathology
  • Syndrome*

Substances

  • Amino Acids
  • Nucleoside Transport Proteins
  • SLC29A3 protein, human