DIAGNOSIS OF AND THERAPY FOR HEREDITARY HAEMORRHAGIC TELANGIECTASIA

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; and determining 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.