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Pathogenic and likely pathogenic variants in at least five genes account for approximately 3% of mild isolated nonsyndromic thrombocytopenia.
Guéguen, Paul; Dupuis, Arnaud; Py, Jean-Yves; Desprès, Aurore; Masson, Emmanuelle; Le Marechal, Cédric; Cooper, David N; Gachet, Christian; Chen, Jian-Min; Férec, Claude.
Affiliation
  • Guéguen P; CHRU Brest, Brest, France.
  • Dupuis A; EFS, Univ Brest, Inserm, UMR 1078, GGB, Brest, France.
  • Py JY; Université de Strasbourg, Institut National de la Santé et de la Recherche Médicale, Etablissement Français du Sang Grand Est, Unité Mixte de Recherche-S 1255, Fédération de Médecine Translationnelle de Strasbourg, Strasbourg, France.
  • Desprès A; EFS Centre-Pays de la Loire, Site d'Orléans, Orléans, France.
  • Masson E; CHRU Brest, Brest, France.
  • Le Marechal C; CHRU Brest, Brest, France.
  • Cooper DN; EFS, Univ Brest, Inserm, UMR 1078, GGB, Brest, France.
  • Gachet C; CHRU Brest, Brest, France.
  • Chen JM; EFS, Univ Brest, Inserm, UMR 1078, GGB, Brest, France.
  • Férec C; Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff, UK.
Transfusion ; 60(10): 2419-2431, 2020 10.
Article in En | MEDLINE | ID: mdl-32757236
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Full text: 1 Database: MEDLINE Main subject: Thrombocytopenia / Genetic Predisposition to Disease / High-Throughput Nucleotide Sequencing / Exome Sequencing / Mutation Type of study: Prognostic_studies Limits: Adolescent / Adult / Aged / Female / Humans / Male / Middle aged Language: En Year: 2020 Type: Article
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PubMed Links
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Full text: 1 Database: MEDLINE Main subject: Thrombocytopenia / Genetic Predisposition to Disease / High-Throughput Nucleotide Sequencing / Exome Sequencing / Mutation Type of study: Prognostic_studies Limits: Adolescent / Adult / Aged / Female / Humans / Male / Middle aged Language: En Year: 2020 Type: Article