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Molecular Genetics of von Willebrand Disease in Korean Patients: Novel Variants and Limited Diagnostic Utility of Multiplex Ligation-Dependent Probe Amplification Analyses.

Hee Jung KimSoon Ki KimKi Young YooKi O LeeJae Won YunSun Hee KimHee Jin KimSang Kyu Park
Published in: Annals of laboratory medicine (2019)
This study revealed the spectrum of VWF variants, including novel ones, and limited diagnostic utility of MLPA analyses in Korean patients with VWD.
Keyphrases
  • end stage renal disease
  • copy number
  • ejection fraction
  • newly diagnosed
  • gene expression
  • dna methylation
  • single molecule
  • nucleic acid
  • fluorescent probe