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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Bibliografiska uppgifter
Huvudupphovsmän: 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.
Materialtyp: Artigo
Språk:Inglês
Publicerad: American Society of Hematology 2014
Ämnen:
Plenary Paper
Länkar: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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