☆ 4.6 Letter

Spontaneous remission in a Diamond-Blackfan anaemia patient due to a revertant uniparental disomy ablating a de novo RPS19 mutation

BRITISH JOURNAL OF HAEMATOLOGY (2019)

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Journal

BRITISH JOURNAL OF HAEMATOLOGY
Volume 185, Issue 5, Pages 994-998

Publisher

WILEY
DOI: 10.1111/bjh.15688

Keywords

Diamond-Blackfan; uniparental disomy; complete remission; revertant mosaicism; RPS19

Categories

Hematology

Funding

  1. Fondazione Umberto Veronesi fellowship 2017
  2. Fondazione Umberto Veronesi fellowship 2018
  3. Italian Ministry for Education, University and Research (Ministero dell'Istruzione, dell'Universita e della Ricerca - MIUR) under the programme Dipartimenti di Eccellenza 2018 - 2022 [D15D18000410001]
  4. Diamond Blackfan Anemia Foundation-USA
  5. Banca del Piemonte

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