ADA-SCID with 'WAZA-ARI' mutations that synergistically abolished ADA protein stability

Br J Haematol. 2011 Jun;153(5):675-6. doi: 10.1111/j.1365-2141.2011.08640.x. Epub 2011 Mar 16.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adenosine Deaminase / genetics*
  • Fatal Outcome
  • Female
  • Humans
  • Infant
  • Male
  • Mutation
  • Pedigree
  • Protein Stability
  • Protein Structure, Tertiary / genetics
  • Severe Combined Immunodeficiency / genetics*

Substances

  • Adenosine Deaminase