Detection of three nonsense mutations and one missense mutation in the interleukin-2 receptor gamma chain gene in SCIDX1 that differently affect the mRNA processing.
Markiewicz
S
S
INSERM U132, Hôpital Necker-Enfants Malades, Paris, France.
Subtil
A
A
Dautry-Varsat
A
A
Fischer
A
A
de Saint Basile
G
G
D000595:Amino Acid Sequence; D001402:B-Lymphocytes; D001483:Base Sequence; D002461:Cell Line, Transformed; D004252:DNA Mutational Analysis; D005091:Exons; D005796:Genes; D004854:Herpesvirus 4, Human; D006801:Humans; D008969:Molecular Sequence Data; D017354:Point Mutation; D012323:RNA Processing, Post-Transcriptional / Q000235:genetics*; D012326:RNA Splicing; D012333:RNA, Messenger / Q000235:genetics* / Q000378:metabolism; D015375:Receptors, Interleukin-2 / Q000737:chemistry / Q000235:genetics*; D016511:Severe Combined Immunodeficiency / Q000145:classification / Q000235:genetics*; D014158:Transcription, Genetic
D012333:RNA, Messenger; D015375:Receptors, Interleukin-2