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Article

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

Haemophilia : the official journal of the World Federation of Hemophilia - 1 Mar 2017

Belvini D, Salviato R, Radossi P, Tagariello G

Abstract excerpt

INTRODUCTION: Molecular characterization has shown a wide mutational spectrum underlying haemophilia A (HA) and haemophilia B (HB). Different molecular assays have allowed laboratories to perform genetic testing for F8 and F9 mutations. AIM: Recently, multiplex ligation-dependent probe amplification (MLPA), a simple technique for relative quantitation of targeted genomic regions, has been introduced in HA and HB...

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PMID: 28205367
DOI: 10.1111/hae.13143

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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