Identification of two new missense mutations (R156C and S291L) in two ADA- SCID patients unusual for response to therapy with partial exchange transfusions

Hum Mutat. 1992;1(2):166-8. doi: 10.1002/humu.1380010214.
No abstract available

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adenosine Deaminase / deficiency
  • Adenosine Deaminase / genetics*
  • Base Sequence
  • DNA / genetics
  • Exchange Transfusion, Whole Blood*
  • Exons
  • Humans
  • Molecular Sequence Data
  • Mutation*
  • Oligodeoxyribonucleotides
  • Polymerase Chain Reaction / methods
  • RNA / genetics
  • Severe Combined Immunodeficiency / enzymology
  • Severe Combined Immunodeficiency / genetics*

Substances

  • Oligodeoxyribonucleotides
  • RNA
  • DNA
  • Adenosine Deaminase