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A novel homozygous variant of the thrombomodulin gene causes a hereditary bleeding disorder

Osada, Makoto Maruyama, Keiko Kokame, Koichi Denda, Koichi Yamazaki, Kohei Kunieda, Hisako Hirao, Maki Madoiwa, Seiji Okumura, Nobuo Murata, Mitsuru 信州大学 DOI:34474479

2022.01.04

概要

Thrombomodulin (TM) is a single-chain type 1 transmembrane glycoprotein encoded by the TM gene
(THBD) and predominantly expressed on the surface of vascular endothelial cells.1 The mature form of
human TM has 557 amino-acid residues constituting 10 elements: the N-terminal C-type lectinlike domain,
6 epidermal growth factor (EGF)-like domains, a serine/threonine-rich region, a transmembrane domain, and
a short cytoplasmic tail.2–4 The most crucial function of TM is the regulation of coagulation and fibrinolysis. ...

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参考文献

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Authorship

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...

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