| Literature DB >> 10073904 |
S Giliani1, M Fiorini, P Mella, F Candotti, R F Schumacher, G S Wengler, F Lalatta, A Fasth, R Badolato, A G Ugazio, A Albertini, L D Notarangelo.
Abstract
We have performed prenatal diagnosis for Wiskott Aldrich syndrome (WAS) in two unrelated families by direct gene analysis. Using a combined non-radioactive analysis of single-strand conformational polymorphism (SSCP) and heteroduplex formation (HD), followed by automated sequencing, we studied DNA from chorionic villus sampling (CVS), allowing the diagnosis of one affected and one healthy male at the 12th week of gestation.Entities:
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Year: 1999 PMID： 10073904
Source DB: PubMed Journal: Prenat Diagn ISSN： 0197-3851 Impact factor: 3.050