Genomic sequence encoding endoglin and fragments thereof
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United States of America Patent
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May 13, 2003
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app pub date -
Sep 28, 1999
filing date -
Nov 29, 1994
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Abstract
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.
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