Article
Mutations in the ribosomal protein genes in Japanese patients with Diamond-Blackfan anemia.
Haematologica - 1 Aug 2010
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
Abstract excerpt
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 50% of patients. There have been no studies to determine the incidence of these mutations in Asian patients with...
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