Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families
| Autor: | 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. * |
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| Zdroj: | In Blood 3 July 2014 124(1):24-32 |
| Databáze: | ScienceDirect |
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