Whole exome sequencing in the differential diagnosis of Diamond-Blackfan anemia: Clinical and molecular study of three patients with novel RPL5 and mosaic RPS19 mutations
Autor: | Errichiello, Edoardo, Vetro, Annalisa, Mina, Tommaso, Wischmeijer, Anita, Berrino, Enrico, Carella, Miriam, Romagnoli, Maria, Sacchini, Patrizia, Venesio, Tiziana, Zecca, Marco, Zuffardi, Orsetta |
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Zdroj: | In Blood Cells, Molecules and Diseases May 2017 64:38-44 |
Databáze: | ScienceDirect |
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