Fig. 1From: Mutation affecting the proximal promoter of Endoglin as the origin of hereditary hemorrhagic telangiectasia type 1 a Schematic representation of the family tree with the distribution of HHT and normal relatives. b Clinical diagnostic criteria of the affected relatives. c Mutated sequence corresponding to this particular HHT family, showing the nucleotide substitution c.-58 G > A at the proximal promoter of Endoglin. Arrows point to the two unaffected individuals, who were also sequencedBack to article page