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

Mutation detection in F8 can be improved by dedicated analysis for inversions and duplications/deletions using milepost assays. Noncarrier mothers of HA patients with Inv22 often have other rearrangements.

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Publication Details

Journal
Journal of Thrombosis and Haemostasis
Published
2026-01-05
DOI
https://doi.org/10.1016/j.jtha.2025.12.014
Primary Topic
Hemophilia Treatment and Research
Type
article
Field-Weighted Citation Impact
0.00
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article

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

Christina Lind‐Halldén, de Moerloose, Eric Manderstedt, van den Berg et al.
Journal of Thrombosis and Haemostasis
Hemophilia Treatment and Research
article

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

Christina Lind‐Halldén, de Moerloose, Eric Manderstedt, van den Berg, Jan Astermark, Christer Halldén, Philippe, Leonard, Rangarajan, Ewing, Indira, Peter, Arlette, Schutgens, Marjolein, Klukowska, Kouides, Alvárez, Edward, Gillian, Nadia, Peters, Patricia, Schwyzer, Pollman, Jerzy, Astermark, Peréz Bianco, Courtney, Monahan, M. H., Thornburg, R, Warrier, Romualdas, Jurgutis, Anne, James, Santagostino, Micic, Rosemary, Rivard, Maria Elisa, Shapiro, Kaan, Meera, Male, Valentino, Chalmers, Gruppo, Mäkipernaa, Marijke, Carmen, Giardina, Mancuso, Altisent, DiMichele, Makris, Kavakli, Cnossen, Georges, Donna, Savita, Johannes, Huang, Paul, Collins, Mayte, Miguel, Raina, Páll, Leissinger, Victor, Windyga, Elizabeth, María Helena, Solano, Escobar, Janic, Iyer, Michael, Jonathan, Ducore, Anna, Ralph, Amy, Christoph, Önundarson, Dragan, Cindy, Chitlur, Oldenburg, Jíminez-Yuste, Raúl, Ruiz-Sáez, Evans, Elena, Rathi, Gomperts, Liesner, Jan, Hartmut, Dragana
article en

Abstract

Mutation detection in F8 can be improved by dedicated analysis for inversions and duplications/deletions using milepost assays. Noncarrier mothers of HA patients with Inv22 often have other rearrangements.

Journal of Thrombosis and HaemostasisVol. 24(4)
Lund University (SE), Kristianstad University (SE), Skåne University Hospital (SE)
Openalex Percentile: Top 98%
Hemophilia Treatment and Research
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