Article
Novel mutations and polymorphisms in genes causing hereditary hemorrhagic telangiectasia.
Human mutation - 1 Mar 2005
Abdalla Salma A, Cymerman Urszula, Rushlow Diane, Chen Ning, Stoeber Gwendolyn P, Lemire Edmond G, Letarte Michelle
Abstract excerpt
Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal dominant vascular disorder caused by mutations in Endoglin (ENG) or activin receptor-like kinase-1 (ALK1, ACVRL1) genes. We performed molecular characterization in clinically affected probands of 31 HHT families and detected a total of 28 different mutations in the two genes, including four shared by more than one family. Twelve mutations were identified...
Topics
- Activin Receptors, Type II
- Adolescent
- Adult
- Amino Acid Substitution
- Antigens, CD
- DNA Mutational Analysis
- Endoglin
- Exons
- Female
- Gastrointestinal Hemorrhage
- Humans
- Intracranial Arteriovenous Malformations
- Introns