A missense mutation in exon 4 of the human adenosine deaminase gene causes severe combined immunodeficiency.
Atasoy
U
U
Department of Pediatrics, Duke University Medical Center, Durham, NC 27710.
Norby-Slycord
C J
CJ
Markert
M L
ML
D000243:Adenosine Deaminase / Q000172:deficiency / Q000235:genetics* / Q000378:metabolism; D001483:Base Sequence; D002461:Cell Line, Transformed; D017931:DNA Primers; D018076:DNA, Complementary / Q000032:analysis; D005091:Exons; D005260:Female; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D016376:Oligonucleotides, Antisense; D017354:Point Mutation; D011061:Poly A / Q000235:genetics / Q000302:isolation & purification; D016133:Polymerase Chain Reaction; D012313:RNA / Q000235:genetics / Q000302:isolation & purification; D012333:RNA, Messenger / Q000235:genetics; D016511:Severe Combined Immunodeficiency / Q000201:enzymology* / Q000235:genetics*
D017931:DNA Primers; D018076:DNA, Complementary; D016376:Oligonucleotides, Antisense; D012333:RNA, Messenger; D011061:Poly A; D012313:RNA; D000243:Adenosine Deaminase