Adult-onset beta-thalassaemia intermedia caused by a 5-Mb somatic clonal segmental deletion in haemopoietic stem cells involving the β-globin locus.

Autor: 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.
Jazyk: angličtina
Zdroj: British journal of haematology [Br J Haematol] 2019 Sep; Vol. 186 (6), pp. e165-e170. Date of Electronic Publication: 2019 Jun 17.
DOI: 10.1111/bjh.16043
Databáze: MEDLINE