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

Authors	Emanuela Garelli, Paola Quarello, Elisa Giorgio, Adriana Carando, Elisa Menegatti, Cecilia Mancini, Eleonora Di Gregorio, Nicoletta Crescenzio, Orazio Palumbo, Massimo Carella, Paola Dimartino, Tommaso Pippucci, Irma Dianzani, Ugo Ramenghi, Alfredo Brusco
Journal	British journal of haematology (Br J Haematol) Vol. 185 Issue 5 Pg. 994-998 (06 2019) ISSN: 1365-2141 [Electronic] England
PMID	30460677 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
Chemical References	Ribosomal Proteins ribosomal protein S19
Topics	Adult Anemia, Diamond-Blackfan (genetics) Humans Male Mutation Ribosomal Proteins (genetics) Uniparental Disomy (genetics)

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