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Fig. 1 | BMC Medical Genetics

Fig. 1

From: Mutation affecting the proximal promoter of Endoglin as the origin of hereditary hemorrhagic telangiectasia type 1

Fig. 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 sequenced

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