one or a few amino acids may result in cell-surface expr~sion of ~/c protein that cannot interact correctly with intracellularsignaling proteins.
Mutations of the CD40 ligand gene in 13 Japanese patients with X-linked hyper-IgM syndrome
β Scribed by Shigeaki Nonoyama; Mitsunobu Shimadzu; Hano Toru; Kuniaki Seyama; Hiroyuki Nunoi; Michael Neubauer; Jun-ichi Yata; Hans D. Ochs
- Publisher
- Springer
- Year
- 1997
- Tongue
- English
- Weight
- 65 KB
- Volume
- 99
- Category
- Article
- ISSN
- 0340-6717
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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
## Abstract We studied the ability of B lymphocytes from patients with Xβlinked hyper IgM syndrome (HIGM1) to be activated via the CD40 membrane receptor. HIGM1 is caused by a CD40 ligand gene mutation, leading to defective expression on the membrane of activated T lymphocytes. We found that trigge