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Article

Non-Inversion Variants in Sporadic Hemophilia A Rarely Recur.

International journal of molecular sciences - 25 Apr 2026

Lin Shih-Yao, Chen Ming, Chang Shun-Ping, Ma Gwo-Chin, Lee Dong-Jay, Yan Adeline, Hsieh Han-Ni, Shen Ming-Ching

Abstract excerpt

Hemophilia A (HA), an X-linked bleeding disorder caused by Factor VIII (F8) gene mutations, persists in the population due to sporadic cases arising from de novo mutations. This study analyzed 24 pedigrees from hemophilia registries of multiple medical centers in Taiwan to assess whether sporadic non-inversion variants (NIVs) recur in the same generation within families. Linkage analysis using intragenic and...

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Identifiers

PMID: 42123421
DOI: 10.3390/ijms27093831
PMCID: PMC13164367

Genes

F8

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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Non-Inversion Variants in Sporadic Hemophilia A Rarely Recur.PMID 42123421Read ↗

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