4.4 Letter

Multiplex ligation-dependent probe amplification enhances molecular diagnosis of Diamond-Blackfan anemia due to RPS19 deficiency

Journal

HAEMATOLOGICA-THE HEMATOLOGY JOURNAL
Volume 93, Issue 11, Pages 1748-1750

Publisher

FERRATA STORTI FOUNDATION
DOI: 10.3324/haematol.13423

Keywords

Diamond-Blackfan anemia; RPS19; deletion; MLPA

Categories

Funding

  1. Telethon [GGP07242] Funding Source: Medline

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