Article
Mutation analysis by a non-radioactive single-strand conformation polymorphism assay in nine families with X-linked severe combined immunodeficiency (SCIDX1).
British journal of haematology - 1 Jun 1998
Wengler G S, Giliani S, Fiorini M, Mella P, Mantuano E, Zanola A, Pollonini G, Eibl M M, Ugazio A G, Notarangelo L D, Parolini O
Abstract excerpt
X-linked severe combined immunodeficiency (SCIDX1) is an inherited disease characterized by profound abnormalities of cell-mediated and humoral immunity. Patients with SCIDX1 have defects in the common cytokine receptor gamma chain gene (IL2RG) that encodes a shared, essential component of the re...
Topics
- DNA Mutational Analysis
- Exons
- Female
- Frameshift Mutation
- Genetic Testing
- Humans
- Male
- Mutation
- Pedigree
- Point Mutation
- Polymerase Chain Reaction
- Polymorphism, Single-Stranded Conformational
- Prenatal Diagnosis
- Receptors, Interleukin