The Ribosomal Basis of Diamond-Blackfan Anemia: Mutation and Database Update

Diamond-Blackfan Anemia (DBA) is characterized by a defect of erythroid progenitors and, clinically, by anemia and malformations. DBA exhibits an autosomal dominant pattern of inheritance with incomplete penetrance. Currently nine genes, all encoding ribosomal proteins (RP), have been found mutated...

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Bibliografski detalji
Izdano u:Hum Mutat
Glavni autori: Boria, Ilenia, Garelli, Emanuela, Gazda, Hanna T., Aspesi, Anna, Quarello, Paola, Pavesi, Elisa, Ferrante, Daniela, Meerpohl, Joerg J., Kartal, Mutlu, Da Costa, Lydie, Proust, Alexis, Leblanc, Thierry, Simansour, Maud, Dahl, Niklas, Fröjmark, Anne-Sophie, Pospisilova, Dagmar, Cmejla, Radek, Beggs, Alan H., Sheen, Mee R., Landowski, Michael, Buros, Christopher M., Clinton, Catherine M., Dobson, Lori J., Vlachos, Adrianna, Atsidaftos, Eva, Lipton, Jeffrey M., Ellis, Steven R., Ramenghi, Ugo, Dianzani, Irma
Format: Artigo
Jezik:Inglês
Izdano: 2010
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Article
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4485435/
https://ncbi.nlm.nih.gov/pubmed/20960466
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.21383
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