Mutations in the ribosomal protein genes in Japanese patients with Diamond-Blackfan anemia

BACKGROUND: Diamond-Blackfan anemia is a rare, clinically heterogeneous, congenital red cell aplasia: 40% of patients have congenital abnormalities. Recent studies have shown that in western countries, the disease is associated with heterozygous mutations in the ribosomal protein (RP) genes in about...

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Autori principali: Konno, Yuki, Toki, Tsutomu, Tandai, Satoru, Xu, Gang, Wang, RuNan, Terui, Kiminori, Ohga, Shouichi, Hara, Toshiro, Hama, Asahito, Kojima, Seiji, Hasegawa, Daiichiro, Kosaka, Yoshiyuki, Yanagisawa, Ryu, Koike, Kenichi, Kanai, Rie, Imai, Tsuyoshi, Hongo, Teruaki, Park, Myoung-Ja, Sugita, Kanji, Ito, Etsuro
Natura: Artigo
Lingua:Inglês
Pubblicazione: Ferrata Storti Foundation 2010
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Original Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2913077/
https://ncbi.nlm.nih.gov/pubmed/20378560
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3324/haematol.2009.020826
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