Autosomal dominant overhydrated stomatocytosis associated with the heterozygous RhAG mutation F65S: a case of missed heterozygosity due to allelic dropout

Br J Haematol. 2013 May;161(4):602-4. doi: 10.1111/bjh.12261. Epub 2013 Feb 14.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Alleles*
  • Anemia, Hemolytic, Congenital / genetics*
  • Blood Proteins / genetics*
  • Child
  • Child, Preschool
  • Female
  • Genes, Dominant*
  • Heterozygote*
  • Humans
  • Infant
  • Male
  • Membrane Glycoproteins / genetics*
  • Mutation*
  • Pedigree
  • Young Adult

Substances

  • Blood Proteins
  • Membrane Glycoproteins
  • RHAG protein, human