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ACVRL1 germinal mosaic with two mutant alleles in hereditary hemorrhagic telangiectasia associated with pulmonary arterial hypertension.
Eyries, M; Coulet, F; Girerd, B; Montani, D; Humbert, M; Lacombe, P; Chinet, T; Gouya, L; Roume, J; Axford, M M; Pearson, C E; Soubrier, F.
Affiliation
  • Eyries M; Oncogenetics and Angiogenetics Laboratory, Groupe Hospitalier Pitié-Salpêtrière, Assistance Publique Hôpitaux de Paris, France.
Clin Genet ; 82(2): 173-9, 2012 Aug.
Article in En | MEDLINE | ID: mdl-21651515
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Telangiectasia, Hereditary Hemorrhagic / Germ-Line Mutation / Activin Receptors, Type II / Alleles / Hypertension, Pulmonary / Mosaicism Type of study: Prognostic_studies / Risk_factors_studies Limits: Adult / Female / Humans Language: En Journal: Clin Genet Year: 2012 Document type: Article Affiliation country: Country of publication:
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Telangiectasia, Hereditary Hemorrhagic / Germ-Line Mutation / Activin Receptors, Type II / Alleles / Hypertension, Pulmonary / Mosaicism Type of study: Prognostic_studies / Risk_factors_studies Limits: Adult / Female / Humans Language: En Journal: Clin Genet Year: 2012 Document type: Article Affiliation country: Country of publication: