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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Spectrum of Molecular Defects in 216 Chinese Families With Hemophilia A: Identification of Noninversion Mutation Hot Spots and 42 Novel Mutations.216个中国血友病A家系的分子缺陷谱：非倒位突变热点的鉴定及42个新突变

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.印度甲型血友病患者的F8基因突变谱：23种新突变的鉴定及与凝血因子VIII抑制剂风险的关联

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.来自意大利南部的一名重度甲型血友病患者中，F8基因内含子1异常倒位并伴有重复和缺失。

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

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Analysis of large structural changes of the factor VIII gene, involving intron 1 and 22, in severe hemophilia A.重度甲型血友病中涉及内含子1和22的凝血因子VIII基因大型结构变化分析

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