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Article

Eighteen years of molecular genotyping the hemophilia inversion hotspot: from southern blot to inverse shifting-PCR.

International journal of molecular sciences - 1 Jan 2011

Rossetti Liliana C, Radic Claudia P, Abelleyro Miguel M, Larripa Irene B, De Brasi Carlos D

Abstract excerpt

The factor VIII gene (F8) intron 22 inversion (Inv22) is a paradigmatic duplicon-mediated rearrangement, found in about one half of patients with severe hemophilia A worldwide. The identification of this prevalent cause of hemophilia was delayed for nine years after the F8 characterization in 1984. The aim of this review is to present the wide diversity of practical approaches that have been developed for...

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Identifiers

PMID: 22072947
DOI: 10.3390/ijms12107271
PMCID: PMC3211038

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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