High frequency of ribosomal protein gene deletions in Italian Diamond-Blackfan anemia patients detected by multiplex ligation-dependent probe amplification assay

Diamond-Blackfan anemia is an autosomal dominant disease due to mutations in nine ribosomal protein encoding genes. Because most mutations are loss of function and detected by direct sequencing of coding exons, we reasoned that part of the approximately 50% mutation negative patients may have carrie...

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Autori principali: Quarello, Paola, Garelli, Emanuela, Brusco, Alfredo, Carando, Adriana, Mancini, Cecilia, Pappi, Patrizia, Vinti, Luciana, Svahn, Johanna, Dianzani, Irma, Ramenghi, Ugo
Natura: Artigo
Lingua:Inglês
Pubblicazione: Ferrata Storti Foundation 2012
Soggetti:
Original Articles and Brief Reports
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3590087/
https://ncbi.nlm.nih.gov/pubmed/22689679
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3324/haematol.2012.062281
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