Severe plasma prekallikrein deficiency: Clinical characteristics, novel KLKB1 mutations, and estimated prevalence.

Alexandru GrigoreanStefanie SollfrankAlice TrincheroAnke AdenaeuerHassan AbolghasemiLaura ContiFriederike HäuserJohanna A Kremer HovingaKarl J LacknerFelicia LoeweckeErwin MiloniNader Vazifeh ShiranLuigi TomaoWalter A WuilleminBarbara ZiegerBernhard LämmleHeidi Rossmann

Published in: Journal of thrombosis and haemostasis : JTH (2020)

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.

Keyphrases

early onset
risk factors
replacement therapy
genome wide
dna methylation
copy number
deep learning
smoking cessation