A homozygous 5 base-pair deletion in exon 10 of the adenosine deaminase (ADA) gene in a child with severe combined immunodeficiency and very low levels of ADA mRNA and protein.
Gossage
D L
DL
Department of Pediatrics, Duke University Medical Center, Durham, NC 27710.
Norby-Slycord
C J
CJ
Hershfield
M S
MS
Markert
M L
ML
D000243:Adenosine Deaminase / Q000172:deficiency / Q000235:genetics*; D001483:Base Sequence; D018076:DNA, Complementary / Q000235:genetics; D006720:Homozygote; D006801:Humans; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D017384:Sequence Deletion; D016511:Severe Combined Immunodeficiency / Q000201:enzymology* / Q000235:genetics*
D018076:DNA, Complementary; D012333:RNA, Messenger; D000243:Adenosine Deaminase