Identification of two new missense mutations (R156C and S291L) in two ADA- SCID patients unusual for response to therapy with partial exchange transfusions.
Hirschhorn
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Department of Medicine, New York University Medical School, New York 10016.
D000243:Adenosine Deaminase / Q000172:deficiency / Q000235:genetics*; D001483:Base Sequence; D004247:DNA / Q000235:genetics; D005078:Exchange Transfusion, Whole Blood; D005091:Exons; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D009838:Oligodeoxyribonucleotides; D016133:Polymerase Chain Reaction / Q000379:methods; D012313:RNA / Q000235:genetics; D016511:Severe Combined Immunodeficiency / Q000201:enzymology / Q000235:genetics*
D009838:Oligodeoxyribonucleotides; D012313:RNA; D004247:DNA; D000243:Adenosine Deaminase