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Original Research

Published on 12 Mar 2015

Genetic variation in the functional ENG allele inherited from the non-affected parent associates with presence of pulmonary arteriovenous malformation in hereditary hemorrhagic telangiectasia 1 (HHT1) and may influence expression of PTPN14

in Genetics of Common and Rare Diseases

  • Tom G. W. Letteboer
  • Michael Benzinou
  • Christopher B. Merrick
  • David A. Quigley
  • Kechen Zhau
  • Il-Jin Kim
  • Minh D. To
  • David M. Jablons
  • Johannes K. P. van Amstel
  • Cornelius J. J. Westermann
Frontiers in Genetics
doi 10.3389/fgene.2015.00067
  • 6,065 views
  • 18 citations