Author:
Taneichi Hiromichi,Kanegane Hirokazu,Futatani Takeshi,Otsubo Keisuke,Nomura Keiko,Sato Yuya,Hama Asahito,Kojima Seiji,Kohdera Urara,Nakano Takahide,Hori Hiroki,Kawashima Hisashi,Inoh Yoko,Kamizono Junji,Adachi Naoto,Osugi Yuko,Mizuno Haruo,Hotta Noriko,Yoneyama Hiroshi,Nakashima Eiji,Ikegawa Shiro,Miyawaki Toshio
Publisher
Springer Science and Business Media LLC
Reference14 articles.
1. Kuijpers TW, Alders M, Tool AT, Mellink C, Roos D, Hennekam RC. Hematological abnormalities in Shwachman Diamond syndrome: lack of genotype-phenotype relationship. Blood. 2005;106:356-361.
2. Nakashima E, Mabuchi A, Makita Y, et al. Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome. Hum Genet. 2004;114:345-348.
3. Kawakami T, Mitsui T, Kanai M, et al. Genetic analysis of Shwachman-Diamond syndrome: phenotypic heterogeneity in patients carrying identical SBDS mutations. Tohoku J Exp Med. 2005;206:253-259.
4. Austin KM, Leary RJ, Shimamura A. The Shwachman-Diamond SBDS protein localizes to the nucleolus. Blood. 2005;106:1253-1258.
5. Woloszynek JR, Rothbaum RJ, Rawls AS, et al. Mutations of the SBDS gene are present in most patients with Shwachman-Diamond syndrome. Blood. 2004;104:3588-3590.
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