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

  • Author(s): Akhurst, Rosemary
  • Letteboer, TGW
  • Benzinou, M
  • Merrick, C
  • Quigley, D
  • Zhau, K
  • Kim, IJ
  • To, MD
  • Jablons, D
  • Van, JKP
  • Westermann, C
  • et al.

Published Web Location

http://europepmc.org/articles/PMC4357294?pdf=render
No data is associated with this publication.
Abstract

© 2015 Akhurst.HHT shows clinical variability within and between families. Organ site and prevalence of arteriovenous malformations (AVMs) depend on the HHT causative gene and on environmental and genetic modifiers. We tested whether variation in the funct

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