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Article

Mutational Profile in Romanian Patients with Hemophilia A.

International journal of molecular sciences - 31 Jul 2024

Grigore Andra, Dragomir Mihaela, Călugăru Onda-Tabita, Jardan Dumitru, Jardan Cerasela, Brînză Melen, Bălănescu Paul, Coriu Daniel

Abstract excerpt

Hemophilia A (HA) is an X-linked recessive bleeding disorder caused by mutations in the F8 gene, resulting in deficient or dysfunctional factor VIII (FVIII). This study aimed to characterize the mutational profile of HA in Romanian patients using next-generation sequencing (NGS) and multiplex ligation-dependent probe amplification (MLPA). A total of 107 patients were analyzed, revealing pathogenic or likely...

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Identifiers

PMID: 39125936
DOI: 10.3390/ijms25158366
PMCID: PMC11312815

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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