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A new gene associated with a ß-thalassemia phenotype: the observation of variants in SUPT5H.
Achour, Ahlem; Koopmann, Tamara; Castel, Rob; Santen, Gijs W E; den Hollander, Nicolette; Knijnenburg, Jeroen; Ruivenkamp, Claudia A L; Arkesteijn, Sandra G J; Ter Huurne, Jeanet; Bisoen, Sharda; Verschuren, Maaike; Vijfhuizen, Linda; Schaap, Rianne; Grimbergen, Anneliese; Slomp, Jennichjen; Traeger-Synodinos, Joanne; Vrettou, Christina; Pissard, Serge; Galacteros, Frederic; Baas, Frank; Harteveld, Cornelis L.
Afiliación
  • Achour A; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Koopmann T; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Castel R; Result Laboratorium, Dordrecht, The Netherlands.
  • Santen GWE; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • den Hollander N; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Knijnenburg J; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Ruivenkamp CAL; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Arkesteijn SGJ; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Ter Huurne J; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Bisoen S; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Verschuren M; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Vijfhuizen L; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Schaap R; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Grimbergen A; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Slomp J; Department of Clinical Chemistry, Medlon/Medisch Spectrum Twente, Enschede, The Netherlands.
  • Traeger-Synodinos J; Laboratory of Medical Genetics, National and Kapodistrian University of Athens, Choremeio Research Laboratory, St. Sophia's Children's Hospital, Athens, Greece.
  • Vrettou C; Laboratory of Medical Genetics, National and Kapodistrian University of Athens, Choremeio Research Laboratory, St. Sophia's Children's Hospital, Athens, Greece.
  • Pissard S; Genetic Department, GHU Henri-Mondor, Assistance Publique-Hôpitaux de Paris, UPEC/IMRB - U955 EQ2 and GrEX, Creteil, France; and.
  • Galacteros F; Red Cell Genetic Disease Unit, GHU Henri-Mondor, Assistance Publique-Hôpitaux de Paris, Université Paris Est/IMRB - U955 EQ2, Créteil, France.
  • Baas F; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Harteveld CL; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Blood ; 136(15): 1789-1793, 2020 10 08.
Article en En | MEDLINE | ID: mdl-32589702
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Variación Genética / Proteínas Nucleares / Talasemia beta / Predisposición Genética a la Enfermedad / Factores de Elongación Transcripcional / Estudios de Asociación Genética Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Female / Humans / Male Idioma: En Revista: Blood Año: 2020 Tipo del documento: Article País de afiliación: Países Bajos
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Variación Genética / Proteínas Nucleares / Talasemia beta / Predisposición Genética a la Enfermedad / Factores de Elongación Transcripcional / Estudios de Asociación Genética Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Female / Humans / Male Idioma: En Revista: Blood Año: 2020 Tipo del documento: Article País de afiliación: Países Bajos