Severe Plasma Prekallikrein Deficiency: Clinical Characteristics, Novel KLKB1 Mutations, and Estimated Prevalence.

CONCLUSIONS: We characterized the genetic background of severe PK deficiency, critically appraised mutations, and provided prevalence estimates. Our data on laboratory characteristics and clinical course of severe PK deficiency may have clinical implications.
PMID: 32202057 [PubMed - as supplied by publisher]

Source: Thrombosis and Haemostasis - March 22, 2020 Category: Hematology Authors: Barco S, Sollfrank S, Trinchero A, Adenaeuer A, Abolghasemi H, Conti L, Häuser F, Kremer Hovinga JA, Lackner KJ, Loewecke F, Miloni E, Vazifeh Shiran N, Tomao L, Wuillemin WA, Zieger B, Lämmle B, Rossmann H Tags: J Thromb Haemost Source Type: research