No live individual homozygous for a novel endoglin mutation was found in a consanguineous Arab family with hereditary haemorrhagic telangiectasia.
Karabegovic
A
A
Cancer Research Program, The Hospital for Sick Children, Toronto, Canada.
Shinawi
M
M
Cymerman
U
U
Letarte
M
M
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*
D015703:Antigens, CD; C064206:ENG protein, human; D000071063:Endoglin; D011956:Receptors, Cell Surface; D019010:Vascular Cell Adhesion Molecule-1