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Wiskott-Aldrich Syndrome: Diagnosis, Clinical and Laboratory Manifestations, and Treatment

✍ Scribed by Hans D. Ochs; Alexandra H. Filipovich; Paul Veys; Morton J. Cowan; Neena Kapoor


Book ID
116280471
Publisher
Elsevier Science
Year
2009
Tongue
English
Weight
163 KB
Volume
15
Category
Article
ISSN
1083-8791

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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 f