Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Molecular study of a large cohort of 109 haemophilia patients from Cuba using a gene panel with next generation sequencing-based technology.

Haemophilia : the official journal of the World Federation of Hemophilia - 1 Jan 2022

Borràs Nina, Castillo-González Dunia, Comes Natalia, Martin-Fernandez Laura, Rivero-Jiménez René Antonio, Chang-Monteagudo Arturo, Ruiz-Moleón Vera, Garrote-Santana Heidys, Vidal Francisco, Macías-Abraham Consuelo

Abstract excerpt

INTRODUCTION: In several countries, molecular diagnosis of haemophilia A (HA) and B (HB) is hampered by a lack of resources for DNA analysis. The advent of next-generation sequencing (NGS) has enabled gene analysis at a reasonable cost. AIM: Describe a collaboration between Cuban and Spanish researchers to identify candidate variants and investigate the molecular epidemiology of 106 Cuban haemophilia patients...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cuba
Share to Factor VIII

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hemophilia A

Share to Hemophilia Treatment and Research

Share to High-Throughput Nucleotide Sequencing

Share to Mutation

Share to Pregnancy

Share to Technology

Source

Identifiers

PMID: 34708896
DOI: 10.1111/hae.14438

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Molecular study of a large cohort of 109 haemophilia patients from Cuba using a gene panel with next generation sequencing-based technology.PMID 34708896Read ↗

Application of a molecular diagnostic algorithm for haemophilia A and B using next-generation sequencing of entire F8, F9 and VWF genes.Semantic proximity Read ↗

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

Assessment of the F9 genotype-specific FIX inhibitor risks and characterisation of 10 novel severe F9 defects in the first molecular series of Argentinian patients with haemophilia B.Semantic proximity Read ↗

The spectrum of FVIII gene variants detected by next generation sequencing in 236 Chinese non-inversion hemophilia A pedigrees.Semantic proximity Read ↗

Sixteen novel hemophilia A causative mutations in the first Argentinian series of severe molecular defects.Semantic proximity Read ↗

Mutational Profile in Romanian Patients with Hemophilia A.Semantic proximity Read ↗

First report of molecular diagnosis of Tunisian hemophiliacs A: identification of 8 novel causative mutations.Semantic proximity Read ↗

Spectrum of F8 gene mutations in haemophilia A patients from a region of Italy: identification of 23 new mutations.Semantic proximity Read ↗

Comprehensive Analysis of Hemophilia A (CAHEA): Towards Full Characterization of the F8 Gene Variants by Long-Read Sequencing.Semantic proximity Read ↗

Molecular characterization of hemophilia B patients in Colombia.Semantic proximity Read ↗

Haemophilia A: molecular insights.Semantic proximity Read ↗

Variant analysis of F8 in 123 patients with hemophilia A: Identification of 18 novel variants.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.