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Molecular genetic diagnosis by next-generation sequencing in a cohort of Mexican patients with haemophilia and report of novel variants.

Blood cells, molecules & diseases - 1 Jul 2020

Villarreal-Martínez Laura, Ibarra-Ramirez Marisol, Calvo-Anguiano Geovana, Lugo-Trampe José de Jesús, Luna-Záizar Hilda, Martínez-de-Villarreal Laura Elia, Meléndez-Aranda Lennon, Jaloma-Cruz Ana-Rebeca

Abstract excerpt

INTRODUCTION: Molecular analysis in haemophilia is currently used in the diagnosis, treatment and prognosis of this disease. Hispanic populations in Latin America have been of interest to researchers due to the reportedly high prevalence of inhibitors in these patients. AIM: To perform next-generation sequencing (NGS) in a cohort of Mexican patients with HA and HB and correlate with clinical phenotypes. METHODS:...

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PMID: 32224444
DOI: 10.1016/j.bcmd.2020.102423

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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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