Genetic variation in the functional ENG allele inherited from the non-affected parent associates with presence of pulmonary arteriovenous malformation in Hereditary Hemorrhagic Telangiectasia type 1 and may influence expression of PTPN14

Genetic variation in the functional ENG allele inherited from the non-affected parent associates with presence of pulmonary arteriovenous malformation in Hereditary Hemorrhagic Telangiectasia type 1 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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Bibliographic Details
Main Author: Rosemary J Akhurst
Format: Article
Language:English
Published: Frontiers Media S.A. 2015-03-01
Series:Frontiers in Genetics
Subjects:
Arteriovenous Malformations
Lung Diseases
TGFbeta
endoglin
genetic modifier
Hereditary hemorrhagic telangiectasia
Online Access:http://journal.frontiersin.org/Journal/10.3389/fgene.2015.00067/full

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