Bernard-Soulier syndrome due to compound heterozygosity for a novel glycoprotein Ibβ mutation.

作者: Tetsuji Sato , Shinji Kunishima , Rie Shirayama , Shun Ichikawa , Michio Sakai

DOI: 10.1159/000351057

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参考文章(15)
Shinji Kunishima, Jose A. Lopez, Sentaro Kobayashi, Nobuaki Imai, Tadashi Kamiya, Hidehiko Saito, Tomoki Naoe, Missense Mutations of the Glycoprotein (GP) Ibβ Gene Impairing the GPIb α/β Disulfide Linkage in a Family With Giant Platelet Disorder Blood. ,vol. 89, pp. 2404- 2412 ,(1997) , 10.1182/BLOOD.V89.7.2404
ShinjI Kunishima, Klyotaka Hayashi, Sentaro Kobayashi, Tomokl Naoe, Ryuzo Ohno, New enzyme-linked immunosorbent assay for glycocalicin in plasma. Clinical Chemistry. ,vol. 37, pp. 169- 172 ,(1991) , 10.1093/CLINCHEM/37.2.169
Silvia Vettore, Raffaella Scandellari, Margherita Scapin, Anna Maria Lombardi, Elena Duner, Maria Luigia Randi, Fabrizio Fabris, A case of Bernard-Soulier Syndrome due to a homozygous four bases deletion (TGAG) of GPIbalpha gene: lack of GPIbalpha but absence of bleeding. Platelets. ,vol. 19, pp. 388- 391 ,(2008) , 10.1080/09537100801949976
Shinji Kunishima, Tomoki Naoe, Tadashi Kamiya, Hidehiko Saito, Novel heterozygous missense mutation in the platelet glycoprotein Ib? gene associated with isolated giant platelet disorder American Journal of Hematology. ,vol. 68, pp. 249- 255 ,(2001) , 10.1002/AJH.10000
Jingrong Tang, Sara Stern-Nezer, Po-Ching Liu, Ludmila Matyakhina, Michael Riordan, Naomi Luban, Peter Steinbach, Stephen Kaler, Mutation in the leucine-rich repeat C-flanking region of platelet glycoprotein Ibβ impairs assembly of von Willebrand factor receptor Thrombosis and Haemostasis. ,vol. 92, pp. 75- 88 ,(2004) , 10.1160/TH04-02-0071
Shinji Kunishima, Tadashi Kamiya, Hidehiko Saito, Genetic abnormalities of Bernard-Soulier syndrome. International Journal of Hematology. ,vol. 76, pp. 319- 327 ,(2002) , 10.1007/BF02982690
Carlo L Balduini, Anna Savoia, Inherited thrombocytopenias: molecular mechanisms. Seminars in Thrombosis and Hemostasis. ,vol. 30, pp. 513- 523 ,(2004) , 10.1055/S-2004-835672
A. Savoia, A. Pastore, D. De Rocco, E. Civaschi, M. Di Stazio, R. Bottega, F. Melazzini, V. Bozzi, A. Pecci, S. Magrin, C. L. Balduini, P. Noris, Clinical and genetic aspects of Bernard-Soulier syndrome: searching for genotype/phenotype correlations. Haematologica. ,vol. 96, pp. 417- 423 ,(2011) , 10.3324/HAEMATOL.2010.032631
Laural B. Ludlow, Barbara P. Schick, Marcia L. Budarf, Deborah A. Driscoll, Elaine H. Zackai, Alan Cohen, Barbara A. Konkle, Identification of a mutation in a GATA binding site of the platelet glycoprotein Ibβ promoter resulting in the Bernard-Soulier syndrome Journal of Biological Chemistry. ,vol. 271, pp. 22076- 22080 ,(1996) , 10.1074/JBC.271.36.22076
Alan Nurden, Paquita Nurden, Robert Combrié, Ségolène Claeyssens, Niamh Moran, Dermot Kenny, Andrew Hillmann, A Novel Hemizygous Bernard-Soulier Syndrome (BSS) Mutation in the Amino Terminal Domain of Glycoprotein (GP)Ibβ Platelet Characterization and Transfection Studies Thrombosis and Haemostasis. ,vol. 88, pp. 1026- 1032 ,(2002) , 10.1055/S-0037-1613350