Open AccessSomatic reversion events point towards RPL4 as a novel disease gene in a condition resembling Diamond-Blackfan anemia
Author(s) -
Marjolijn C.J. Jongmans,
Illja J. Diets,
Paola Quarello,
Emanuela Garelli,
Roland P. Kuiper,
Rolph Pfundt
Publication year - 2018
Publication title -
haematologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.782
H-Index - 142
eISSN - 1592-8721
pISSN - 0390-6078
DOI - 10.3324/haematol.2018.200683
Subject(s) - reversion , diamond–blackfan anemia , somatic cell , medicine , gene , point mutation , genetics , biology , mutation , rna , phenotype , ribosome