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
Zdroj: In Blood Cells, Molecules and Diseases May 2017 64:38-44
Databáze: ScienceDirect