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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.
Afiliação
  • Letteboer TG; Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco San Francisco, CA, USA ; Department of Medical Genetics, University Medical Centre Utrecht Utrecht, Netherlands.
  • Benzinou M; Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco San Francisco, CA, USA.
  • Merrick CB; Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco San Francisco, CA, USA ; Department of Clinical Genetics, University of Dundee Dundee, UK.
  • Quigley DA; Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco San Francisco, CA, USA.
  • Zhau K; Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco San Francisco, CA, USA.
  • Kim IJ; Department of Surgery, University of California, San Francisco San Francisco, CA, USA.
  • To MD; Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco San Francisco, CA, USA ; Department of Surgery, University of California, San Francisco San Francisco, CA, USA.
  • Jablons DM; Department of Surgery, University of California, San Francisco San Francisco, CA, USA.
  • van Amstel JK; Department of Medical Genetics, University Medical Centre Utrecht Utrecht, Netherlands.
  • Westermann CJ; Department of Pulmonology, St. Antonius Hospital Nieuwegein, Netherlands.
  • Giraud S; Department of Medical Genetics, Lyon University Hospital Lyon, France.
  • Dupuis-Girod S; Department of Medical Genetics, Lyon University Hospital Lyon, France.
  • Lesca G; Department of Medical Genetics, Lyon University Hospital Lyon, France.
  • Berg JH; Department of Clinical Genetics, University of Dundee Dundee, UK.
  • Balmain A; Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco San Francisco, CA, USA ; Department of Biochemistry and Biophysics, University of California, San Francisco San Francisco, CA, USA ; Institute of Human Genetics, University of California, San Francisco San Franc
  • Akhurst RJ; Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco San Francisco, CA, USA ; Institute of Human Genetics, University of California, San Francisco San Francisco, CA, USA ; Department of Anatomy, University of California, San Francisco San Francisco, CA, USA.
Front Genet ; 6: 67, 2015.
Article em En | MEDLINE | ID: mdl-25815003
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Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Etiology_studies / Qualitative_research / Risk_factors_studies Idioma: En Ano de publicação: 2015 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Etiology_studies / Qualitative_research / Risk_factors_studies Idioma: En Ano de publicação: 2015 Tipo de documento: Article