Genomic sequence encoding endoglin and fragments thereof

摘要

A method of diagnosing hereditary haemorrhagic telangiectasia (HHT) which includes the steps of:obtaining a sample of genomic DNA from a patient or fetus; anddetermining whether the DNA contains a mutation in a gene encoding endoglin, betaglycan, TGF-beta type I receptor (RI), TGF-beta type II receptor (RII), or TGF-beta/activin type I receptor (TSR-I), such a mutation being an indication that the patient or fetus bears a gene making the patient or fetus susceptible to HHT.