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First de novo mutation in RPS19 gene as the cause of hydrops fetalis in Diamond–Blackfan anemia
Author(s) -
Da Costa Lydie,
ChanozPoulard Geneviève,
Simansour Maud,
French Martine,
Bouvier Raymonde,
Prieur Fabienne,
Couque Nathalie,
Delezoide Anne Lise,
Leblanc Thierry,
Mohandas Narla,
Touraine Renaud
Publication year - 2013
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/ajh.23366
Subject(s) - hydrops fetalis , medicine , diamond–blackfan anemia , fetus , pediatrics , anemia , family history , pregnancy , obstetrics , genetics , gene , biology , ribosome , rna