Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families

Diamond-Blackfan anemia (DBA) is a cancer-prone inherited bone marrow failure syndrome. Approximately half of DBA patients have a germ-line mutation in a ribosomal protein gene. We used whole-exome sequencing to identify disease-causing genes in 2 large DBA families. After filtering, 1 nonsynonymous...

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Autores principales: Mirabello, Lisa, Macari, Elizabeth R., Jessop, Lea, Ellis, Steven R., Myers, Timothy, Giri, Neelam, Taylor, Alison M., McGrath, Katherine E., Humphries, Jessica M., Ballew, Bari J., Yeager, Meredith, Boland, Joseph F., He, Ji, Hicks, Belynda D., Burdett, Laurie, Alter, Blanche P., Zon, Leonard, Savage, Sharon A.
Formato: Artigo
Lenguaje:Inglês
Publicado: American Society of Hematology 2014
Materias:
Plenary Paper
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4125351/
https://ncbi.nlm.nih.gov/pubmed/24829207
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2013-11-540278
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