Title : A case of thrombomodulin mutation causing defective thrombin binding with absence of protein C and TAFI activation.

Pub. Date : 2020 Jun 23

PMID : 32556284






1 Functional Relationships(s)
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Protein Name
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1 The patient had a homozygous substitution of glycine by aspartate at amino acid residue 412 (Gly412Asp) in the thrombin-binding domain of the thrombomodulin gene (designated thrombomodulin-Nagasaki). Aspartic Acid coagulation factor II, thrombin Homo sapiens