Figure 2
From: 5'UTR mutations of ENG cause hereditary hemorrhagic telangiectasia
A. Sequencing results from one individual with the c.-127C > T heterozygous mutation. The forward sequence is shown. The arrow indicates the position of the mutation. 2B. Sequencing results from two individuals (one homozygous and one heterozygous) for the -9G > A mutation. The arrow indicates the position of the mutation. 2C. Schematic representation of endoglin mRNA. The 5'UTR, the 3'UTR and the open reading frame (ORF) are indicated. Endoglin cDNA accession number (X72012) corresponding to the 3073-bp mRNA of endoglin [21] and the gene ID (GI, 402206) are also included. The sequence of the 5'UTR and part of the signal peptide (-282/+15) is shown. Asterisks indicate the positions mutated in panels 2a and 2b.