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Article

Identification of deep intronic variants in 15 haemophilia A patients by next generation sequencing of the whole factor VIII gene.

Thrombosis and haemostasis - 1 Oct 2015

Bach J Elisa, Wolf Beat, Oldenburg Johannes, Müller Clemens R, Rost Simone

Abstract excerpt

Current screening methods for factor VIII gene (F8) mutations can reveal the causative alteration in the vast majority of haemophilia A patients. Yet, standard diagnostic methods fail in about 2% of cases. This study aimed at analysing the entire intronic sequences of the F8 gene in 15 haemophilia A patients by next generation sequencing. All patients had a mild to moderate phenotype and no mutation in the coding...

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PMID: 25948085
DOI: 10.1160/TH14-12-1011

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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