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Article

F8 genetic analysis strategies when standard approaches fail.

Hamostaseologie - 1 Jan 2014

Pezeshkpoor B, Pavlova A, Oldenburg J, El-Maarri O

Abstract excerpt

Haemophilia A is a common X-linked recessive disorder caused by mutations in F8 leading to deficiency or dysfunction of coagulant factor VIII (FVIII). Despite tremendous improvements in mutation screening methods, in a small group of patients with FVIII deficiency suffering from haemophilia A, no DNA change can be found. In these patients, analysis reveals no causal mutations even after sequencing the whole...

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Identifiers

PMID: 24296544
DOI: 10.5482/HAMO-13-08-0043

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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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