ReviewInternational journal of molecular sciences2011
Eighteen years of molecular genotyping the hemophilia inversion hotspot: from southern blot to inverse shifting-PCR.
Review in International journal of molecular sciences, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
10 citing papers in PubMed, 27 citations in OpenAlex.
- Novel Strategy for Structural Variant Genotyping by Short-Read Genomic Sequencing From Restriction-Circles: Experimental and Bioinformatics Proof-of-Concept.Human mutation · 2026Article
- Inverse Shifting-PCR Modified by Capillary Electrophoresis for Detecting F8Life (Basel, Switzerland) · 2024Article
- Comprehensive Analysis of Hemophilia A (CAHEA): Towards Full Characterization of the F8 Gene Variants by Long-Read Sequencing.Thrombosis and haemostasis · 2023Article
- Large Intron Inversions in Romanian Patients with Hemophilia A-First Report.Medicina (Kaunas, Lithuania) · 2023Article
- Mutation detection and inhibitor risk in Iranian patients with Hemophilia A: Six novel mutations.Clinical case reports · 2020Article
- Rapid genotyping of F8 intron 22 inversion by nested PCR based on long-distance PCR.Journal of thrombosis and thrombolysis · 2020Article
- Genotyping of Intron Inversions and Point Mutations in Exon 14 of the FVIII Gene in Iranian Azeri Turkish Families with Hemophilia A.Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion · 2016Article
- Validation and genotyping of multiple human polymorphic inversions mediated by inverted repeats reveals a high degree of recurrence.PLoS genetics · 2014Article
- De novo mutation in DMD gene in a patient with combined hemophilia A and Duchenne muscular dystrophy.International journal of hematology · 2014Article
- Systematic molecular analysis of hemophilia A patients from Colombia.Genetics and molecular biologyArticle
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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 genotyping the Inv22 (and related int22h rearrangements) since discovery in 1993. The sequence- Southern blot, long distance-PCR and inverse shifting-PCR-for Inv22 genotyping is an interesting example of scientific ingenuity and evolution in order to resolve challenging molecular diagnostic problems.
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Registered trials
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