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Article

Identification of de novo deletion in the factor VIII gene by MLPA technique in two girls with isolated factor VIII deficiency.

Haemophilia : the official journal of the World Federation of Hemophilia - 1 May 2009

Lannoy N, Abinet I, Dahan K, Hermans C

Abstract excerpt

Blood coagulation evaluation performed preoperatively in two unrelated girls with isolated prolongation of the activated partial thromboplastin time (APTT) and no family history of bleeding disorder revealed a mild factor VIII deficiency. Quantitative and qualitative defect of von Willebrand factor was not present. Genetic analysis of the F8 gene identified no mutations. In contrast, quantitative gene screening...

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Identifiers

PMID: 19432928
DOI: 10.1111/j.1365-2516.2008.01974.x

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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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