Literature DB >> 12850844

Recurrent mutation Trp126 --> stop of glycoprotein IX in Japanese Bernard-Soulier syndrome.

Tamiko Toyohama1, Akitoshi Nagasaki, Kazuo Gushi, Kazumitsu Tamaki, Masato Masuda, Nobuyuki Takasu.   

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Year:  2003        PMID： 12850844     DOI： 10.1080/0953710031000092848

Source DB:  PubMed          Journal:  Platelets        ISSN： 0953-7104            Impact factor:   3.862


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  3 in total

1.  Bernard-Soulier syndrome due to GPIX W127X mutation in Japan is frequently misdiagnosed as idiopathic thrombocytopenic purpura.

Authors:  Shinji Kunishima; Toshiki Yamada; Motohiro Hamaguchi; Hidehiko Saito
Journal:  Int J Hematol       Date:  2006-05       Impact factor: 2.490

2.  Platelets with a W127X mutation in GPIX express sufficient residual amounts of GPIbα to support adhesion to von Willebrand factor and collagen.

Authors:  Yuka Takata; Taisuke Kanaji; Masaaki Moroi; Ritsuko Seki; Masayuki Sano; Sachie Nakazato; Eisaburo Sueoka; Yutaka Imamura; Takashi Okamura
Journal:  Int J Hematol       Date:  2012-11-11       Impact factor: 2.490

3.  Novel Mutation in Bernard-Soulier Syndrome.

Authors:  Kirstin Sandrock; Ralf Knöfler; Andreas Greinacher; Birgitt Fürll; Sebastian Gerisch; Ulrich Schuler; Siegmund Gehrisch; Anja Busse; Barbara Zieger
Journal:  Transfus Med Hemother       Date:  2010-09-15       Impact factor: 3.747
  3 in total

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