Article
Severe plasma prekallikrein deficiency: Clinical characteristics, novel KLKB1 mutations, and estimated prevalence.
Journal of thrombosis and haemostasis : JTH - 1 Jul 2020
Barco Stefano, Sollfrank Stefanie, Trinchero Alice, Adenaeuer Anke, Abolghasemi Hassan, Conti Laura, Häuser Friederike, Kremer Hovinga Johanna A, Lackner Karl J, Loewecke Felicia, Miloni Erwin, Vazifeh Shiran Nader, Tomao Luigi, Wuillemin Walter A, Zieger Barbara, Lämmle Bernhard, Rossmann Heidi
Abstract excerpt
BACKGROUND: Severe plasma prekallikrein (PK) deficiency is an autosomal-recessive defect characterized by isolated activated partial thromboplastin time prolongation. To date, no comprehensive methodologically firm analysis has investigated the diagnostic, clinical, and genetic characteristics of PK deficiency, and its prevalence remains unknown. PATIENTS/METHODS: We described new families with PK deficiency,...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.