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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