Article
Characterization of 17 novel endoglin mutations associated with hereditary hemorrhagic telangiectasia.
Human mutation - 1 May 2003
Cymerman Urszula, Vera Sonia, Karabegovic Amna, Abdalla Salma, Letarte Michelle
Abstract excerpt
Hereditary hemorrhagic telangiectasia type 1 (HHT1) is a vascular dysplasia caused by mutations in the endoglin (ENG) gene and associated with epistaxis, telangiectases, and a high incidence of pulmonary arteriovenous malformations. To efficiently detect deletions and insertions, we optimized a quantitative multiplex polymerase chain reaction (QMPCR) analysis. We report 17 novel mutations, of which six were...
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