CD40Lbase: a database of CD40L gene mutations causing X-linked hyper-IgM syndrome
✍ Scribed by Luigi D. Notarangelo; Manuel C. Peitsch; Tore G. Abrahamsen; Colette Bachelot; Pierre Bordigoni; Andrew J. Cant; Helen Chapel; Mauritio Clementi; Sarah Deacock; Geneviève de Saint Basile; Marzia Duse; Teresa Espanol; Amos Etzioni; Anders Fasth; Alain Fischer; Silvia Giliani; Lina Gomez; Lennart Hammarstrom; Alison Jones; Maria Kanariou; Christine Kinnon; Timo Klemola; Richard A. Kroczek; Jacov Levy; Nuria Matamoros; Virginia Monafo; Paolo Paolucci; Igor Reznick; Ozden Sanal; C.I.Edvard Smith; R.A. Thompson; Pierangelo Tovo; Anna Villa; Mauno Vihinen; Jaak Vossen; Ben J.M. Zegers; Hans D. Ochs; Mary Ellen Conley; M. Iseki; Narayanaswamy Ramesh; Mitsunobu Shimadzu; Osamu Saiki
- Publisher
- Elsevier Science
- Year
- 1996
- Tongue
- English
- Weight
- 865 KB
- Volume
- 17
- Category
- Article
- ISSN
- 0167-5699
No coin nor oath required. For personal study only.
✦ Synopsis
one or a few amino acids may result in cell-surface expr~sion of ~/c protein that cannot interact correctly with intracellularsignaling proteins.
📜 SIMILAR VOLUMES
Mutations in the gene encoding CD40 ligand have been shown to be the cause of X-linked hypogammaglobulinemia with hyper IgM (HIGM1). We have used the technique of single strand conformational polymorphism (SSCP) analysis to screen for mutations in this gene in affected boys from nineteen unrelated f
We present the first report of prenatal diagnosis of X-linked hyper-IgM syndrome by PCR-mediated site directed mutagenesis (PSM) in a woman known to carry the Q220X mutation in the CD40L gene. Using the simple PSM assay, the Q220X mutation was identified by chorionic villous sampling (CVS) at 11 wee