Antithrombin Phe229Leu: a new homozygous variant leading to spontaneous antithrombin polymerization in vivo associated with severe childhood thrombosis

Abstract excerpt

There is increasing evidence that serpin conformational alteration caused by single point mutations can be responsible for protein deficiency associated with human diseases. A typical example is the alpha1-antitrypsin deficiency caused by the Z variant carrying a Glu342Lys substitution. Only a few cases of "conformational disease" involving other serpins have been described so far. We investigated a severe...

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