Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000304586 Individual ID 00412593 Associated disease PKKD Phenotype details In a outine coagulation testing diagnosis of a severe PK deficiency based on aPTT prolongation, normal activity of coagulation factors except for FXII:C (39%-50%), neither heparinemia nor lupus anticoagulant, decreasing aPTT with increasing pre-incubation time, and <1% for PK:C and PK:Ag Diagnosis/Initial - Inheritance Unknown Diagnosis/Definite - Age/Examination 26y (26 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Christian Drouet Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Created by Christian Drouet Date created 2022-07-01 16:06:15 +02:00 (CEST) Date last edited 2022-07-07 09:55:19 +02:00 (CEST)

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