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Whole F9 gene sequencing identified deep intronic variations in genetically unresolved hemophilia B patients.

Journal of thrombosis and haemostasis : JTH - 1 Apr 2023

Dericquebourg Amy, Fretigny Mathilde, Chatron Nicolas, Tardy Brigitte, Zawadzki Christophe, Chambost Hervé, Vinciguerra Christine, Jourdy Yohann

Abstract excerpt

BACKGROUND: The disease-causative variant remains unidentified in approximately 0.5% to 2% of hemophilia B patients using conventional genetic investigations, and F9 deep intronic variations could be responsible for these phenotypes. OBJECTIVES: This study aimed to characterize deep intronic variants in hemophilia B patients for whom genetic investigations failed. METHODS: We performed whole F9 sequencing in 17...

Topics

Humans
Hemophilia B
Introns
Mutation
Phenotype

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 36696202
DOI: 10.1016/j.jtha.2022.12.005

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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