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
Letteboer, Tom G W, Benzinou, Michael, Merrick, Christopher B, Quigley, David A, Zhau, Kechen, Kim, Il-Jin, To, Minh D, Jablons, David M, van Amstel, Johannes K P, Westermann, Cornelius J J, Giraud, Sophie, Dupuis-Girod, Sophie, Lesca, Gaetan, Berg, Jonathan H, Balmain, Allan, Akhurst, Rosemary J
Published in Frontiers in genetics (12.03.2015)
Published in Frontiers in genetics (12.03.2015)
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