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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Bibliografiska uppgifter
Huvudupphovsmän: Quarello, Paola, Garelli, Emanuela, Brusco, Alfredo, Carando, Adriana, Mancini, Cecilia, Pappi, Patrizia, Vinti, Luciana, Svahn, Johanna, Dianzani, Irma, Ramenghi, Ugo
Materialtyp: Artigo
Språk:Inglês
Publicerad: Ferrata Storti Foundation 2012
Ämnen:
Original Articles and Brief Reports
Länkar: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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