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Article

De Novo Noninversion Variants Implicated in Sporadic Hemophilia A: A Variant Origin and Timing Study.

International journal of molecular sciences - 1 Feb 2024

Chen Ming, Shen Ming-Ching, Chang Shun-Ping, Ma Gwo-Chin, Lee Dong-Jay, Yan Adeline

Abstract excerpt

Sporadic hemophilia A (HA) enables the persistence of HA in the population. F8 gene inversion originates mainly in male germ cells during meiosis. To date, no studies have shown the origin and timing of HA sporadic noninversion variants (NIVs); herein, we assume that HA-sporadic NIVs are generated as a de novo variant. Of the 125 registered families with HA, 22 were eligible for inclusion. We conducted a linkage...

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Identifiers

PMID: 38339041
DOI: 10.3390/ijms25031763
PMCID: PMC10855912

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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