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Article

Prevalence of intron 1 inversion of cases with hemophilia A in North Indian population.

Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis - 1 Nov 2012

Faridi Nuzhat Jahan, Kumar Praveen, Husain Nuzhat

Abstract excerpt

Hemophilia A is an X-linked bleeding disorder resulting from heterogeneous mutations in the factor VIII (FVIII) gene. The disease is frequently caused by intron 22 inversion mutation in FVIII gene in approximately 50% cases and by intron 1 inversion (Inv1) in 2% to 5% cases with severe hemophilia A. Both inversion mutations occur due to intrachromosomal recombination between inverted repeats found in intronic...

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PMID: 22371627
DOI: 10.1177/1076029611435094

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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