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.
Abstract
摘要
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Screening of Intron 1 Inversion of the Factor VIII Gene in 130 Patients with Severe Hemophilia A from a Pakistani Cohort.
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本文引用的文献
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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.
Clin Appl Thromb Hemost. 2018 Jan;24(1):70-78. doi: 10.1177/1076029616687848. Epub 2017 Jan 5.
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F8 gene mutation profile in Indian hemophilia A patients: Identification of 23 novel mutations and factor VIII inhibitor risk association.
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Aberrant F8 gene intron 1 inversion with concomitant duplication and deletion in a severe hemophilia A patient from Southern Italy.
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Int22h-related inversions causing hemophilia A: a novel insight into their origin and a new more discriminant PCR test for their detection.
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Factor VIII gene intron 1 inversion: lower than expected prevalence in Italian haemophiliac severe patients.
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Analysis of large structural changes of the factor VIII gene, involving intron 1 and 22, in severe hemophilia A.
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Inversion of intron 1 of the factor VIII gene for direct molecular diagnosis of hemophilia A.
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Haemophilia A and haemophilia B: molecular insights.
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