Intronic point mutation in the IL2RG gene causing X-linked severe combined immunodeficiency.
Tassara
C
C
Laboratory for Gene Transfer, National Center for Human Genome Research, National Institutes of Health, Bethesda, MD 20892-4470, USA.
Pepper
A E
AE
Puck
J M
JM
D000328:Adult; D001483:Base Sequence; D017931:DNA Primers; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D007438:Introns; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational; D012313:RNA / Q000235:genetics / Q000378:metabolism; D012326:RNA Splicing; D015375:Receptors, Interleukin-2 / Q000235:genetics*; D016511:Severe Combined Immunodeficiency / Q000235:genetics*; D014960:X Chromosome
D017931:DNA Primers; D015375:Receptors, Interleukin-2; D012313:RNA