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Article

Noncarrier mothers of hemophilia A patients with Intron 22 inversions often have other rearrangements.

Journal of thrombosis and haemostasis : JTH - 1 Apr 2026

Manderstedt Eric, Lind-Halldén Christina, Halldén Christer, Astermark Jan

Abstract excerpt

BACKGROUND: Inversions involving intron 22 (Inv22) of the F8 gene are detected in approximately 45% of all severe hemophilia A (HA) patients. Digital droplet polymerase chain reaction using milepost assays and multiplex ligation-dependent probe amplification (MLPA) allows robust diagnosis of inversions, copy number variations, and more complex rearrangements in F8. OBJECTIVES: A total of 350 HA patients and 280...

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Share to Chromosome Inversion
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 41500367
DOI: 10.1016/j.jtha.2025.12.014

Genes

F8

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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