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Familial Multiple Coagulation Factor Deficiencies (FMCFDs) in a Large Cohort of Patients-A Single-Center Experience in Genetic Diagnosis.

Barbara PreislerBehnaz PezeshkpoorAtanas BanchevRonald FischerBarbara ZiegerUte ScholzHeiko RühlBettina Kemkes-MatthesUrsula SchmittRedlich AntjeSule UnalHans-Jürgen LawsMartin OlivieriJohannes OldenburgAnna Pavlova
Published in: Journal of clinical medicine (2021)
FMCFDs are heritable abnormalities of hemostasis with a very low population frequency rendering them orphan diseases. A combination of comprehensive screening of residual activities and molecular genetic analysis could avoid under- and misdiagnosis.
Keyphrases
  • end stage renal disease
  • ejection fraction
  • newly diagnosed
  • chronic kidney disease
  • peritoneal dialysis
  • genome wide
  • gene expression
  • patient reported outcomes
  • copy number
  • single molecule