Multiplex ligation-dependent probe amplification enhances molecular diagnosis of Diamond-Blackfan anemia due to RPS19 deficiency
2008; Ferrata Storti Foundation; Volume: 93; Issue: 11 Linguagem: Inglês
10.3324/haematol.13423
ISSN1592-8721
AutoresP. Quarello, Emanuela Garelli, Alfredo Brusco, Adriana Carando, Polyxeni G. Pappi, Massimo Barberis, Valentina Coletti, Maria Francesca Campagnoli, Irma Dianzani, Ugo Ramenghi,
Tópico(s)Epigenetics and DNA Methylation
ResumoDiamond-Blackfan anemia (DBA,#MIM105650) is a rare congenital pure red cell aplasia characterized by nor-mochromic macrocytic anemia, reticulocytopenia, and normocellular bone marrow with a selective deficiency of erythroid precursors. Defects in the RPS19 gene on chromosome 19q13.2 are the main
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