Mutations in the common gamma chain (y~ or IL2RG) of the interleukin-2, -4, -7, -9 and -15 receptors have been found to cause X-linked severe combined immunodeficiency (SCIDX1). We report here on the mutations identified in a further ten families. Two of the mutations identified have occurred twice
Complete genomic organization of the human JAK3 gene and mutation analysis in severe combined immunodeficiency by single-strand conformation polymorphism
β Scribed by R.F. Schumacher; P. Mella; R. Badolato; M. Fiorini; G. Savoldi; S. Giliani; A. Villa; F. Candotti; A. Tampalini; J.J. O'Shea; L.D. Notarangelo
- Publisher
- Springer
- Year
- 2000
- Tongue
- English
- Weight
- 88 KB
- Volume
- 106
- Category
- Article
- ISSN
- 0340-6717
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
## Detection of mutations and polymorphisms in the p53 tumor suppressor gene by single-strand conformation polymorphism analysis Deciphering the genetic mechanisms in cancer development requires analysis of a large number of tumors for consistent genetic alterations. Single-strand conformational p
To detect mutations in the thiopurine S-methyltransferase gene (TPMT), we have developed a strategy based on single-strand conformation polymorphism (SSCP) analysis of the gene amplified by polymerase chain reaction (PCR). The sensitivity of the method was first evaluated by analyzing DNA samples fr