Fig. 3.

Summary of group A ENG mutations generating stop codons. Results are presented for L-endoglin transcript (the major transcript) (A) and for the S-endoglin transcript (B) for which, due to retention of the final intron, the final exon-exon junction is between exons 12 and 13 and not exons 13 and 14 (see fig. 4), with implications for stop codon mutations in exon 12.