ALOX12 mutation in a family with dominantly inherited bleeding diathesis

The arachidonic acid (AA) cascade plays a significant role in platelet aggregation. AA released from membrane phospholipids is metabolized by cyclooxygenase (COX) pathway to thromboxane A (TXA ) or by 12S-lipoxygenase (ALOX12) to 12-hydroperoxyeicosatetraenoic acid (12-HPETE). In contrast to a well-...

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Veröffentlicht in:	Journal of human genetics 2021-08, Vol.66 (8), p.753-759
Hauptverfasser:	Mitsui, Tetsuo, Makino, Satoshi, Tamiya, Gen, Sato, Hiroko, Kawakami, Yuki, Takahashi, Yoshitaka, Meguro, Toru, Izumino, Hiroko, Sudo, Yosuke, Norota, Ikuo, Ishii, Kuniaki, Hayasaka, Kiyoshi
Format:	Artikel
Sprache:	eng
Schlagworte:	Arachidonic acid Bleeding Calcium signalling Collagen Inositol 1,4,5-trisphosphate receptors Lipoxygenase Mutation Next-generation sequencing Phospholipase C Phospholipids Platelet aggregation Prostaglandin endoperoxide synthase Sequence analysis Signal transduction Thrombin Thromboxane A2
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