单词 |
thromboxane synthetase deficiency |
释义 |
thromboxane synthetase deficiency thromboxane synthetase deficiency A rare autosomal recessive disorder (OMIM:274180) characterised by haemorrhagic diathesis. Molecular pathology Caused by defects of TBXAS1, which encodes a member of the cytochrome P450 monooxygenase that converts prostglandin H2 to thromboxane A2. |
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