Originele taal-2 | Engels |
---|---|
Pagina's (van-tot) | e607-e609 |
Tijdschrift | Haematologica |
Volume | 103 |
Nummer van het tijdschrift | 12 |
DOI's | |
Status | Gepubliceerd - dec. 2018 |
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In: Haematologica, Vol. 103, Nr. 12, 12.2018, blz. e607-e609.
Onderzoeksoutput: Bijdrage aan tijdschrift › Artikel › peer review
TY - JOUR
T1 - Somatic reversion events point towards RPL4 as a novel disease gene in a condition resembling Diamond-Blackfan anemia
AU - Jongmans, Marjolijn C J
AU - Diets, Illja J
AU - Quarello, Paola
AU - Garelli, Emanuela
AU - Kuiper, Roland P
AU - Pfundt, Rolph
N1 - Funding Information: Funding: this work was supported by funding from AIRC - Associazione Italiana Ricerca sul Cancro Investigator Research Grant (to MC), Fondazione Guido Berlucchi, Progetto di Ricerca 2014 (to CT), and Fondazione del Monte di Bologna/Ravenna. This project was co-funded thanks to a donation from Maria Grazia Zorzi and Gianpaolo Barison through BolognAIL ONLUS (Associazione Italiana contro le Leucemie, i Linfomi e il Mieloma - Section of Bologna). EB is the recipient of a grant from the Umberto Veronesi Foundation. Correspondence: [email protected] doi:10.3324/haematol.2017.186924 Information on authorship, contributions, and financial & other disclosures was provided by the authors and is available with the online version of this article at www.haematologica.org.
PY - 2018/12
Y1 - 2018/12
KW - Anemia, Diamond-Blackfan/genetics
KW - Base Sequence
KW - DNA Mutational Analysis
KW - Female
KW - Genetic Predisposition to Disease/genetics
KW - Humans
KW - Infant
KW - Mutation
KW - Ribosomal Proteins/genetics
UR - http://www.scopus.com/inward/record.url?scp=85056783461&partnerID=8YFLogxK
U2 - 10.3324/haematol.2018.200683
DO - 10.3324/haematol.2018.200683
M3 - Article
C2 - 30213830
SN - 0390-6078
VL - 103
SP - e607-e609
JO - Haematologica
JF - Haematologica
IS - 12
ER -