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A novel mutation in MECOM affects MPL regulation in vitro and results in thrombocytopenia and bone marrow failure.
Ammeti, Daniele; Marzollo, Antonio; Gabelli, Maria; Zanchetta, Melania Eva; Tretti-Parenzan, Caterina; Bottega, Roberta; Capaci, Valeria; Biffi, Alessandra; Savoia, Anna; Bresolin, Silvia; Faleschini, Michela.
Affiliation
  • Ammeti D; Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy.
  • Marzollo A; Pediatric Hematology, Oncology and Stem Cell Transplant Division, Padua University Hospital, Padua, Italy.
  • Gabelli M; Pediatric Hematology, Oncology and Stem Cell Transplant Division, Padua University Hospital, Padua, Italy.
  • Zanchetta ME; Maternal and Child Health Department, Padua University, Padua, Italy.
  • Tretti-Parenzan C; Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy.
  • Bottega R; Pediatric Hematology, Oncology and Stem Cell Transplant Division, Padua University Hospital, Padua, Italy.
  • Capaci V; Maternal and Child Health Department, Padua University, Padua, Italy.
  • Biffi A; Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy.
  • Savoia A; Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy.
  • Bresolin S; Pediatric Hematology, Oncology and Stem Cell Transplant Division, Padua University Hospital, Padua, Italy.
  • Faleschini M; Maternal and Child Health Department, Padua University, Padua, Italy.
Br J Haematol ; 203(5): 852-859, 2023 12.
Article in En | MEDLINE | ID: mdl-37610030
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Pancytopenia / Thrombocytopenia Type of study: Prognostic_studies Limits: Child / Humans / Newborn Language: En Journal: Br J Haematol Year: 2023 Document type: Article Affiliation country: Country of publication:
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Pancytopenia / Thrombocytopenia Type of study: Prognostic_studies Limits: Child / Humans / Newborn Language: En Journal: Br J Haematol Year: 2023 Document type: Article Affiliation country: Country of publication: