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Article

Complex recombination with deletion in the F8 and duplication in the TMLHE mediated by int22h copies during early embryogenesis.

Thrombosis and haemostasis - 26 Jul 2017

Chen Changming, Xie Xiaoling, Wu Xi, Lu Yeling, Wang Xuefeng, Wu Wenman, Hu Yiqun, Ding Qiulan

Abstract excerpt

Haemophilia A (HA) is a common X-linked recessive bleeding disorder and almost one half of patients with severe HA are caused by intron 22 inversion (Inv22) in the F8. Inv22 is considered to be almost exclusively of meiotic origin in germ cells during spermatogenesis and only one mosaic Inv22 female carrier with the mutation possibly occurring during mitosis of the embryo has been reported so far. Previously we...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28492696
DOI: 10.1160/TH17-01-0046

Genes

TMLHE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Complex recombination with deletion in the F8 and duplication in the TMLHE mediated by int22h copies during early embryogenesis.PMID 28492696Read ↗

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