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Article

A pericentric inversion of chromosome X disrupting F8 and resulting in haemophilia A.

Journal of clinical pathology - 1 Aug 2017

Xin Yu, Zhou Jingyi, Ding Qiulan, Chen Changming, Wu Xi, Wang Xuefeng, Wang Hongli, Jiang Xiaofeng

Abstract excerpt

AIMS: The frequency of X chromosome pericentric inversion is much less than that of autosome chromosome. We hereby characterise a pericentric inversion of X chromosome associated with severe factor VIII (FVIII) deficiency in a sporadic haemophilia A (HA) pedigree. METHODS: PCR primer walking and genome walking strategies were adopted to identify the exact breakpoints of the inversion. Copy number variations...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28073995
DOI: 10.1136/jclinpath-2016-204050

Genes

PFKFB1

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