ArticleHuman genetics1990
The molecular genetic analysis of haemophilia A; characterization of six partial deletions in the factor VIII gene.
Article in Human genetics, 1990. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 42 citations in OpenAlex.
- Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition.Nucleic acids research · 1994Article
- Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition.Nucleic acids research · 1994Article
- Germ-line origins of mutation in families with hemophilia B: the sex ratio varies with the type of mutation.American journal of human genetics · 1993Article
- Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene.Nucleic acids research · 1991Article
- The molecular genetics of haemophilia A: screening for point mutations in the factor VIII gene using the restriction enzyme TaqI.Human genetics · 1991Article
- Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment.Human genetics · 1991Article
Corrections and comments
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Authors and funding
10 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In a survey of 528 unrelated haemophilia A patients, six partial deletions of the factor VIII (FVIII) gene were detected by Southern blotting. These deletions were further mapped by a combination of Southern blotting and polymerase chain reaction amplification and found to vary in length between 4.7 kb and 57 kb. The frequency of detectable FVIII gene deletions (about 1%) frequency of detectable FVIII gene deletions (about 1%) is thus considerably lower than previously reported. Statistical analysis of currently available data did not provide any evidence for a deletion "'hotspot". Four of the six deletion patients reported here possessed inhibitors. Taken together with previous data, deletion of the FVIII gene was found to be associated with an approximately five-fold higher risk of developing inhibitors compared with other severe haemophiliacs without gene deletions.
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