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

Identification of a novel large deletion in a patient with severe factor V deficiency using an in-house F5 MLPA assay.

Haemophilia : the official journal of the World Federation of Hemophilia - 1 Jan 2015

Nuzzo F, Paraboschi E M, Straniero L, Pavlova A, Duga S, Castoldi E

Abstract excerpt

Factor V (FV) deficiency is a rare autosomal recessive bleeding disorder caused by mutations in the F5 gene. FV-deficient patients in whom no mutation or only one mutation is found may harbour large gene rearrangements, which are not detected by conventional mutation screening strategies. The aim of this study was to develop and validate a multiplex ligation-dependent probe amplification (MLPA) assay for the...

Read the complete abstract on PubMed

Topics

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

Share to DNA Mutational Analysis
Share to Factor V Deficiency

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Multiplex Polymerase Chain Reaction

Share to Mutation

Source

Identifiers

PMID: 25438872
DOI: 10.1111/hae.12536

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

Identification of a novel large deletion in a patient with severe factor V deficiency using an in-house F5 MLPA assay.PMID 25438872Read ↗

Genetic and Clinical Characteristics of Russian Patients with Congenital Factor V Deficiency.Semantic proximity Read ↗

Identification of mutations in the F9 gene including exon deletion by multiplex ligation-dependent probe amplification in 33 unrelated Korean patients with haemophilia B.Semantic proximity Read ↗

Multiplex ligation-dependent probe amplification as first mutation screening for large deletions and duplications in haemophilia.Semantic proximity Read ↗

Large genomic deletions and duplications in the BRCA1 gene identified by a novel quantitative method.Semantic proximity Read ↗

Designing a simple multiplex ligation-dependent probe amplification (MLPA) assay for rapid detection of copy number variants in the genome.Semantic proximity Read ↗

Methylation-specific multiplex ligation-dependent probe amplification enables a rapid and reliable distinction between male FMR1 premutation and full-mutation alleles.Semantic proximity Read ↗

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

Multiplex Ligation-Dependent Probe Amplification for Rapid Detection of Proteolipid Protein 1 Gene Duplications and Deletions in Affected Males and Carrier Females with Pelizaeus–Merzbacher DiseaseSemantic proximity Read ↗

Multiplex Ligation-Dependent Probe Amplification (MLPA) for the Detection of Copy Number Mutations in the DMD Gene.Semantic proximity Read ↗

A summary of molecular genetic findings in fructose-1,6-bisphosphatase deficiency with a focus on a common long-range deletion and the role of MLPA analysis.Semantic proximity Read ↗

Brugada Syndrome Caused by a Large Deletion in SCN5A Only Detected by Multiplex Ligation-Dependent Probe AmplificationSemantic proximity Read ↗

Identification of two novel large deletions in FBN1 gene by next-generation sequencing and multiplex ligation-dependent probe amplification.Semantic proximity Read ↗

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