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Prenatal diagnosis of X-linked hyper-IGM syndrome by direct detection of mutation Q220X in the CD40L gene using PCR-mediated site directed mutagenesis by R. Jayoussi–Assalia; A. Etzioni; L.D. Notarangelo; R. Brill-Zamir; L. Kasinetz; E Kadouri; R. Gershoni-Baruch is a Medicine article available to read on EtoBox.

What is Prenatal diagnosis of X-linked hyper-IGM syndrome by direct detection of mutation Q220X in the CD40L gene using PCR-mediated site directed mutagenesis about?

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 weeks' gestation and the pregnancy was terminated.

Who reads Prenatal diagnosis of X-linked hyper-IGM syndrome by direct detection of mutation Q220X in the CD40L gene using PCR-mediated site directed mutagenesis?

Author

R. Jayoussi–Assalia; A. Etzioni; L.D. Notarangelo; R. Brill-Zamir; L. Kasinetz; E Kadouri; R. Gershoni-Baruch

Publisher

John Wiley and Sons; Wiley (John Wiley & Sons); John Wiley & Sons Inc.; Wiley; Research Square (ISSN 0197-3851)

Published

2000

Language

EN

Field

Medicine (Health Sciences)