Functional analysis of a novel ENG variant in a patient with hereditary hemorrhagic telangiectasia (HHT) identifies a new Sp1 binding-site
Author:
Funder
Ministerio de Industria, Economia y Competitividad
Centro de Investigacion Biomedica en Red de Enfermedades Raras
Publisher
Elsevier BV
Subject
Genetics,General Medicine
Reference33 articles.
1. Mutation affecting the proximal promoter of Endoglin as the origin of hereditary hemorrhagic telangiectasia type 1;Albiñana;BMC Med. Genet.,2017
2. Imputation of exome sequence variants into population-based samples and blood-cell-trait-associated loci in african americans: NHLBI GO exome sequencing project;Auer;Am. J. Hum. Genet.,2012
3. Heritable forms of pulmonary arterial hypertension;Austin;Semin. Respir. Crit. Care Med.,2013
4. Hereditary hemorrhagic telangiectasia: an overview of diagnosis and management in the molecular era for clinicians;Bayrak-Toydemir;Gend. Med.,2004
5. Identification and expression of two forms of the human transforming growth factor-beta-binding protein endoglin with distinct cytoplasmic regions;Bellón;Eur. J. Immunol.,1993
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