title: No live individual homozygous for a novel endoglin mutation was found in a consanguineous Arab family with hereditary haemorrhagic telangiectasia.
authors.affiliation: Cancer Research Program, The Hospital for Sick Children, Toronto, Canada.
authors.forename: A
authors.initials: A
authors.lastname: Karabegovic
authors.forename: M
authors.initials: M
authors.lastname: Shinawi
authors.forename: U
authors.initials: U
authors.lastname: Cymerman
authors.forename: M
authors.initials: M
authors.lastname: Letarte
mesh_terms: D000328:Adult; D015703:Antigens, CD; D018912:Arabs / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D004252:DNA Mutational Analysis; D000071063:Endoglin; D005192:Family Health; D005260:Female; D005313:Fetal Death / Q000235:genetics; D006720:Homozygote; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D009154:Mutation; D020125:Mutation, Missense; D010375:Pedigree; D011956:Receptors, Cell Surface; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*; D019010:Vascular Cell Adhesion Molecule-1 / Q000235:genetics*
chemical_list: D015703:Antigens, CD; C064206:ENG protein, human; D000071063:Endoglin; D011956:Receptors, Cell Surface; D019010:Vascular Cell Adhesion Molecule-1