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Linkage Analysis and Disease Models in Benign Familial Infantile Seizures: A Study of 16 Families

✍ Scribed by Pasquale Striano; Maria Luisa Lispi; Elena Gennaro; Francesca Madia; Monica Traverso; Laura Bordo; Paolo Aridon; Filippo Martinelli Boneschi; Baldassare Barone; Bernardo dalla Bernardina; Amedeo Bianchi; Giuseppe Capovilla; Pasquale De Marco; Olivier Dulac; Roberto Gaggero; Antonio Gambardella; Rima Nabbout; Jean-François Prud'homme; Ruth Day; Francesca Vanadia; Marilena Vecchi; Pierangelo Veggiotti; Federico Vigevano; Maurizio Viri; Carlo Minetti; Federico Zara

Book ID
109108907
Publisher
Wiley (Blackwell Publishing)
Year
2006
Tongue
English
Weight
272 KB
Volume
47
Category
Article
ISSN
0013-9580

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Fabry disease: Comparison of enzymatic,
Fabry disease: Comparison of enzymatic, linkage, and mutation analysis for carrier detection in a family with a novel mutation (30delG)
✍ Ashton-Prolla, P.; Ashley, G.A.; Giugliani, R.; Pires, R.F.; Desnick, R.J.; Eng, 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 41 KB 👁 2 views

Fabry disease (FD) is an X-linked recessive disorder caused by the deficient activity of the lysosomal enzyme ␣-galactosidase A (␣-Gal A). Affected males are reliably diagnosed by demonstration of deficient ␣-Gal A activity in plasma or leukocytes. However, identification of female carriers is probl