Title : Safe childbirth for a type 1 antithrombin-deficient woman with novel mutation in the SERPINC1 gene undergoing antithrombin concentrate therapy.

Pub. Date : 2019 Jan

PMID : 30431449






1 Functional Relationships(s)
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1 We encountered a case of inherited type I AT deficiency and identified the causative mutation; a novel c.7430A>G missense mutation in the SERPINC1 gene in which tyrosine was substituted for cysteine at the 292nd amino acid. Cysteine serpin family C member 1 Homo sapiens