Intronic point mutation in the IL2RG gene causing X-linked severe combined immunodeficiency

Hum Mol Genet. 1995 Sep;4(9):1693-5. doi: 10.1093/hmg/4.9.1693.

Authors

C Tassara¹, A E Pepper, J M Puck

Affiliation

¹ Laboratory for Gene Transfer, National Center for Human Genome Research, National Institutes of Health, Bethesda, MD 20892-4470, USA.

PMID: 8541866
DOI: 10.1093/hmg/4.9.1693

No abstract available

Publication types

Research Support, U.S. Gov't, P.H.S.

MeSH terms

Adult
Base Sequence
DNA Primers
Female
Genetic Linkage*
Humans
Introns*
Male
Molecular Sequence Data
Pedigree
Point Mutation*
Polymorphism, Single-Stranded Conformational
RNA / genetics
RNA / metabolism
RNA Splicing
Receptors, Interleukin-2 / genetics*
Severe Combined Immunodeficiency / genetics*
X Chromosome*

Substances

DNA Primers
Receptors, Interleukin-2
RNA