Figure 1
From: 5'UTR mutations of ENG cause hereditary hemorrhagic telangiectasia
A. Family segregation study for family 2. The pedigree for family 2 is shown. The c.-127C > T mutation was shown to segregate among affected individuals in this family, where 5 clinically affected family members were available for the family segregation study. 1B. Family segregation study for family 4. The pedigree for family 4 is shown. Three family members were sequenced. Two unaffected family members were shown to be negative for the mutation. 1C. Family segregation study for family 6. The pedigree for family 6 is shown. 3 family members were available from family 6. All 3 carried the -127C > T mutation.