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Article

Novel characterization of a breakpoint in F8: an individualized approach to gene analysis when PCR and MLPA results contradict.

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

Pezeshkpoor B, Theophilus B D M, Guilliatt A M, Oldenburg J, Williams M D, El-Maarri O

Abstract excerpt

Haemophilia A is an X-linked bleeding disorder caused by heterogeneous mutations in the F8 gene. Two inversion hotspots in intron 22 and intron 1, as well as point mutations, small insertions and deletions in the F8 gene account for causal mutations leading to severe haemophilia A. Rarely, novel...

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Share to Chromosome Breakpoints
Share to Chromosomes, Human, X
Share to Factor VIII

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Multiplex Polymerase Chain Reaction

Share to Mutagenesis, Insertional

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Source

Identifiers

PMID: 25622659
DOI: 10.1111/hae.12606

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25622659-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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