Self-reverting mutations partially correct the blood phenotype in a Diamond Blackfan anemia patient
Author(s) -
Parvathy Venugopal,
Sarah Moore,
David Lawrence,
Amee J. George,
Ross D. Hannan,
Sarah Bray,
Luen Bik To,
Richard J. D’Andrea,
Jinghua Feng,
Amanda Tirimacco,
Alexandra L. Yeoman,
Chun Chun Young,
Miriam Fine,
Andreas Schreiber,
Christopher N Hahn,
Christopher Barnett,
Ben Saxon,
Hamish S. Scott
Publication year - 2017
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.2017.166678
Subject(s) - diamond–blackfan anemia , macrocytic anemia , anemia , medicine , pure red cell aplasia , phenotype , reversion , congenital disorder , pediatrics , genetics , biology , surgery , gene , ribosome , rna
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