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Article

Complete F9 Gene Deletion, Duplication, and Triplication Rearrangements: Implications for Factor IX Expression and Clinical Phenotypes.

Thrombosis and haemostasis - 1 Apr 2024

Ma YuXin, Li Yang, Sun Jie, Liang Qian, Wu Runhui, Ding Qiulan, Dai Jing

Abstract excerpt

BACKGROUND: Factor IX (FIX) plays a critical role in blood coagulation. Complete deletion of F9 results in severe hemophilia B, whereas the clinical implications of complete F9 duplication and triplication remain understudied. OBJECTIVE: To investigate the rearrangement mechanisms underlying complete F9 deletion (cases 1 and 2), duplication (cases 3 and 4), and triplication (case 5), and to explore their...

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Identifiers

PMID: 38011862
DOI: 10.1055/a-2217-9837
PMCID: PMC10965312

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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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