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A novel splice-site mutation in the CD40L gene in a patient with X-linked hyper-IgM syndrome

✍ Scribed by Dezsö David; Ulrike Orth; Helmut Heilbronner; Andreas Gal


Publisher
John Wiley and Sons
Year
1996
Tongue
English
Weight
215 KB
Volume
7
Category
Article
ISSN
1059-7794

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Prenatal diagnosis of X-linked hyper-IGM
✍ R. Jayoussi–Assalia; A. Etzioni; L.D. Notarangelo; R. Brill-Zamir; L. Kasinetz; 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 55 KB 👁 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