对来自巴基斯坦队列的130例重度A型血友病患者进行凝血因子VIII基因内含子1倒位筛查。 - Suppr

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超能文献

Screening of Intron 1 Inversion of the Factor VIII Gene in 130 Patients with Severe Hemophilia A from a Pakistani Cohort.

作者信息

Sattar Azhar, Hussain Shabbir, Ullah Muhammad Ikram, Mahmood Saqib, Mohsin Shahida

机构信息

University of Health Sciences Faculty of Medicine, Department of Hematology, Lahore, Pakistan.

出版信息

Turk J Haematol. 2017 Aug 2;34(3):278-279. doi: 10.4274/tjh.2017.0031. Epub 2017 Mar 15.

DOI:10.4274/tjh.2017.0031

PMID:28294101

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5544055/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fbcc/5544055/0628d2cdc70a/TJH-34-278-g2.jpg

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本文引用的文献

Spectrum of Molecular Defects in 216 Chinese Families With Hemophilia A: Identification of Noninversion Mutation Hot Spots and 42 Novel Mutations.

Clin Appl Thromb Hemost. 2018 Jan;24(1):70-78. doi: 10.1177/1076029616687848. Epub 2017 Jan 5.

F8 gene mutation profile in Indian hemophilia A patients: Identification of 23 novel mutations and factor VIII inhibitor risk association.

Mutat Res. 2016 Apr;786:27-33. doi: 10.1016/j.mrfmmm.2016.02.002. Epub 2016 Feb 10.

Aberrant F8 gene intron 1 inversion with concomitant duplication and deletion in a severe hemophilia A patient from Southern Italy.

J Thromb Haemost. 2013 Jan;11(1):195-7. doi: 10.1111/jth.12061.

J Thromb Haemost. 2006 Mar;4(3):591-8. doi: 10.1111/j.1538-7836.2006.01840.x.

Factor VIII gene intron 1 inversion: lower than expected prevalence in Italian haemophiliac severe patients.

Haemophilia. 2004 Mar;10(2):194-6. doi: 10.1111/j.1365-2516.2003.00855.x.

Analysis of large structural changes of the factor VIII gene, involving intron 1 and 22, in severe hemophilia A.

Haematologica. 2003 Jul;88(7):778-84.

Inversion of intron 1 of the factor VIII gene for direct molecular diagnosis of hemophilia A.

Haematologica. 2003 Jan;88(1):118-20.

Haemophilia A and haemophilia B: molecular insights.

Mol Pathol. 2002 Feb;55(1):1-18. doi: 10.1136/mp.55.1.1.

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