Literature DB >> 9579882

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

M Iwanaga, S Kunishima, S Ikeda, M Tomonaga, T Naoe.   

Abstract

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Year:  1998        PMID： 9579882     DOI： 10.1111/j.1600-0609.1998.tb01035.x

Source DB:  PubMed          Journal:  Eur J Haematol        ISSN： 0902-4441            Impact factor:   2.997


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  6 in total

Review 1.  Genetic abnormalities of Bernard-Soulier syndrome.

Authors:  Shinji Kunishima; Tadashi Kamiya; Hidehiko Saito
Journal:  Int J Hematol       Date:  2002-11       Impact factor: 2.490

2.  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

3.  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

4.  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

5.  Diagnosis and Management of Inherited Platelet Disorders.

Authors:  Carl Maximilian Kirchmaier; Daniele Pillitteri
Journal:  Transfus Med Hemother       Date:  2010-09-15       Impact factor: 3.747

Review 6.  Bernard-Soulier syndrome (hemorrhagiparous thrombocytic dystrophy).

Authors:  François Lanza
Journal:  Orphanet J Rare Dis       Date:  2006-11-16       Impact factor: 4.123
  6 in total

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