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

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 functional ENG allele, inherited from the unaffected parent, alt...

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Detalhes bibliográficos
Publicado no:Front Genet
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2015
Assuntos:
Pediatrics
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4357294/
https://ncbi.nlm.nih.gov/pubmed/25815003
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2015.00067
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