日本伯纳德-索利尔综合征中糖蛋白IX的复发性突变Trp126 --> 终止密码子 - Suppr

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超能文献

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

作者信息

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

机构信息

Second Department of Internal Medicine, Faculty of Medicine, University of the Ryukus, Okinawa, Japan.

出版信息

Platelets. 2003 May;14(3):197-8. doi: 10.1080/0953710031000092848.

DOI:10.1080/0953710031000092848

PMID:12850844

Abstract

摘要

相似文献

Recurrent mutation Trp126 --> stop of glycoprotein IX in Japanese Bernard-Soulier syndrome.日本伯纳德-索利尔综合征中糖蛋白IX的复发性突变Trp126 --> 终止密码子

Platelets. 2003 May;14(3):197-8. doi: 10.1080/0953710031000092848.

Vulnerable mutation Trp126-->stop of glycoprotein IX in Japanese Bernard-Soulier syndrome.日本型伯纳德-索利尔综合征中糖蛋白IX的易损突变Trp126→终止密码子

Eur J Haematol. 1998 Apr;60(4):264-6. doi: 10.1111/j.1600-0609.1998.tb01035.x.

Bernard-Soulier syndrome with severe bleeding: absent platelet glycoprotein Ib alpha due to a homozygous one-base deletion.伴有严重出血的伯纳德-索利尔综合征：由于纯合单碱基缺失导致血小板糖蛋白 Ibα 缺失。

Thromb Haemost. 1996 Nov;76(5):670-4.

Bernard-Soulier syndrome: novel nonsense mutation in GPIbbeta gene affecting GPIb-IX complex expression.伯纳德-索利尔综合征：糖蛋白Ibβ基因中的新型无义突变影响糖蛋白Ib-IX复合物表达。

Ann Hematol. 2009 May;88(5):465-72. doi: 10.1007/s00277-008-0611-8. Epub 2008 Sep 30.

A novel homozygous 8-base pair deletion mutation in the glycoprotein Ibalpha gene in a patient with Bernard-Soulier syndrome.一名患有伯纳德-索利尔综合征患者的糖蛋白Ibalpha基因中出现一种新的纯合8碱基对缺失突变。

Blood Coagul Fibrinolysis. 2009 Sep;20(6):470-4. doi: 10.1097/MBC.0b013e32832b27fa.

The same genetic defect in three Tunisian families with Bernard Soulier syndrome: a probable founder Stop mutation in GPIbβ.三个突尼斯 Bernard-Soulier 综合征家系存在相同的基因突变：GPIbβ 上可能存在一个起始密码子突变。

Ann Hematol. 2010 Jan;89(1):75-81. doi: 10.1007/s00277-009-0763-1. Epub 2009 May 30.

Recurrent mutation Asn45-->Ser of glycoprotein IX in Bernard-Soulier syndrome.

Eur J Haematol. 1996 Aug;57(2):178-9. doi: 10.1111/j.1600-0609.1996.tb01357.x.

Novel mutation in the glycoprotein Ibβ in a patient with Bernard-Soulier syndrome: possibility of distant parental consanguinity.一名患有伯纳德-索利尔综合征患者的糖蛋白Ibβ基因新突变：远亲血缘关系的可能性。

Blood Coagul Fibrinolysis. 2012 Jun;23(4):335-7. doi: 10.1097/MBC.0b013e32835187e2.

A 13 base pair deletion in the GPIbbeta gene in a second unrelated Bernard-Soulier family due to slipped mispairing between direct repeats.在第二个无关的Bernard-Soulier家族中，由于直接重复序列之间的滑动错配，GPIbbeta基因发生了13个碱基对的缺失。

J Thromb Haemost. 2004 Sep;2(9):1663-5. doi: 10.1111/j.1538-7836.2004.00895.x.

Bernard-soulier syndrome with a homozygous 13 base pair deletion in the signal peptide-coding region of the platelet glycoprotein Ib(beta) gene.血小板糖蛋白Ib（β）基因信号肽编码区存在13个碱基对纯合缺失的伯纳德-索利尔综合征。

Blood Coagul Fibrinolysis. 2003 Jun;14(4):387-94. doi: 10.1097/00001721-200306000-00010.

引用本文的文献

Platelets with a W127X mutation in GPIX express sufficient residual amounts of GPIbα to support adhesion to von Willebrand factor and collagen.携带有 GPIX 基因 W127X 突变的血小板能够表达足够数量的 GPIbα，从而支持其与血管性血友病因子和胶原的黏附。

Int J Hematol. 2012 Dec;96(6):733-42. doi: 10.1007/s12185-012-1216-5. Epub 2012 Nov 11.

Novel Mutation in Bernard-Soulier Syndrome.伯纳德-索利尔综合征的新型突变

Transfus Med Hemother. 2010;37(5):278-284. doi: 10.1159/000320255. Epub 2010 Sep 15.

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

Int J Hematol. 2006 May;83(4):366-7. doi: 10.1532/IJH97.06017.

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