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Structural organization of the gene for CD40 ligand: molecular analysis for diagnosis of X-linked hyper-IgM syndrome

✍ Scribed by Mitsunobu Shimadzu; Hiroyuki Nunoi; Hiroshi Terasaki; Rukako Ninomiya; Mayumi Iwata; Shiro Kanegasaka; Ichiro Matsuda


Book ID
113263020
Publisher
Elsevier Science
Year
1995
Tongue
English
Weight
626 KB
Volume
1260
Category
Article
ISSN
0167-4781

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Prenatal diagnosis of X-linked hyper-IGM
✍ R. Jayoussi–Assalia; A. Etzioni; L.D. Notarangelo; R. Brill-Zamir; L. Kasinetz; πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 55 KB πŸ‘ 2 views

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