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Adult-onset beta-thalassaemia intermedia caused by a 5-Mb somatic clonal segmental deletion in haemopoietic stem cells involving the ß-globin locus.
Traeger-Synodinos, Joanne; Bosch, Cathy A J; Vrettou, Christina; Maragoudaki, Lena; Apostolidis, Janos; Kanavakis, Emmanuel; Kattamis, Christos; Arkesteijn, Sandra G J; Hoffer, Mariëtte J V; Ruivenkamp, Claudia A L; Harteveld, Cornelis L.
Afiliação
  • Traeger-Synodinos J; Department of Medical Genetics, National & Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece.
  • Bosch CAJ; Department of Clinical Genetics/LDGA, Leiden University Medical Centre, Leiden, the Netherlands.
  • Vrettou C; Department of Medical Genetics, National & Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece.
  • Maragoudaki L; Department of Medical Genetics, National & Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece.
  • Apostolidis J; Department of Haematology and Bone Marrow Transplantation, Evangelismos Hospital, Athens, Greece.
  • Kanavakis E; Genesis Genoma Laboratory, Athens, Greece.
  • Kattamis C; National & Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece.
  • Arkesteijn SGJ; Department of Clinical Genetics/LDGA, Leiden University Medical Centre, Leiden, the Netherlands.
  • Hoffer MJV; Department of Clinical Genetics/LDGA, Leiden University Medical Centre, Leiden, the Netherlands.
  • Ruivenkamp CAL; Department of Clinical Genetics/LDGA, Leiden University Medical Centre, Leiden, the Netherlands.
  • Harteveld CL; Department of Clinical Genetics/LDGA, Leiden University Medical Centre, Leiden, the Netherlands.
Br J Haematol ; 186(6): e165-e170, 2019 09.
Article em En | MEDLINE | ID: mdl-31206601
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Sequência de Bases / Família Multigênica / Deleção de Sequência / Talassemia beta / Globinas beta / Loci Gênicos Limite: Adult / Female / Humans Idioma: En Revista: Br J Haematol Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Grécia
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Sequência de Bases / Família Multigênica / Deleção de Sequência / Talassemia beta / Globinas beta / Loci Gênicos Limite: Adult / Female / Humans Idioma: En Revista: Br J Haematol Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Grécia