Ribosomal protein mutations in Korean patients with Diamond-Blackfan anemia

Diamond-Blackfan anemia (DBA) is a congenital bone marrow failure syndrome characterized by hypoproliferative anemia, associated physical malformations and a predisposition to cancer. DBA has been associated with mutations and deletions in the large and small ribosomal protein genes, and genetic abe...

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Hlavní autoři: Chae, Hyojin, Park, Joonhong, Lee, Seungok, Kim, Myungshin, Kim, Yonggoo, Lee, Jae-Wook, Chung, Nack-Gyun, Cho, Bin, Chul Jeong, Dae, Kim, Jiyeon, Kim, Jung Rok, Park, Geon
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2014
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Original Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3972785/
https://ncbi.nlm.nih.gov/pubmed/24675553
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/emm.2013.159
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