Article
Mutation analysis in Spanish patients with hereditary hemorrhagic telangiectasia: deficient endoglin up-regulation in activated monocytes.
Clinical chemistry - 1 Nov 2004
Sanz-Rodriguez Francisco, Fernandez-L Africa, Zarrabeitia Roberto, Perez-Molino Alfonso, Ramírez Jose R, Coto Eliecer, Bernabeu Carmelo, Botella Luisa M
Abstract excerpt
BACKGROUND: Mutations in the endoglin (ENG) or ALK1 genes are responsible for hereditary hemorrhagic telangiectasia types 1 and 2 (HHT1 and HHT2), respectively, a dominant vascular dysplasia caused by haploinsufficiency. No formal mutation studies of patients with HHT have been conducted in Spain. METHODS: ENG and ALK1 mutation analyses were carried out in 13 Spanish HHT patients diagnosed according to the...
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