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A novel splice site mutation in intron C of PROS1 leads to markedly reduced mutant mRNA level, absence of thrombin-sensitive region, and impaired secretion and cofactor activity of mutant protein S.
Okada H, Kunishima S, Hamaguchi M, Takagi A, Yamamoto K, Takamatsu J, Matsushita T, Saito H, Kojima T, Yamazaki T. Okada H, et al. Among authors: hamaguchi m. Thromb Res. 2010 May;125(5):e246-50. doi: 10.1016/j.thromres.2009.11.029. Epub 2009 Dec 21. Thromb Res. 2010. PMID: 20022358
Detection of unique neutrophil non-muscle myosin heavy chain-A localization by immunofluorescence analysis in MYH9 disorder presented with macrothrombocytopenia without leukocyte inclusions and deafness.
Kunishima S, Matsushita T, Shiratsuchi M, Ikuta T, Nishimura J, Hamaguchi M, Naoe T, Saito H. Kunishima S, et al. Among authors: hamaguchi m. Eur J Haematol. 2005 Jan;74(1):1-5. doi: 10.1111/j.1600-0609.2004.00328.x. Eur J Haematol. 2005. PMID: 15613099
First description of somatic mosaicism in MYH9 disorders.
Kunishima S, Matsushita T, Yoshihara T, Nakase Y, Yokoi K, Hamaguchi M, Saito H. Kunishima S, et al. Among authors: hamaguchi m. Br J Haematol. 2005 Feb;128(3):360-5. doi: 10.1111/j.1365-2141.2004.05323.x. Br J Haematol. 2005. PMID: 15667538 Free article.
879 results