OMIM: 306700Inheritance: X-linked recessive
Classification: Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | F8 |
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| Dna Change: | Exon 13 duplication |
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| Protein Change: | |
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| Mutation Type: | Duplication |
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| Mutation Effect: | |
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| Location: | exon 13 |
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| Transcript: | NM_000132.3 |
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| Gene/Locus: | F8 |
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| Dna Change: | c.1538-18G>A |
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| Protein Change: | |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Splice site |
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| Location: | intron 10 |
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| Transcript: | NM_000132.3 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Italy | NA | Southern | NA | NA | Santacroce R et al., 2008Santacroce R, Santoro R, Sessa F, Iannaccaro P, Sarno M, Longo V, Gallone A, Vecchione G, Muleo G, Margaglione M, . Screening of mutations of hemophilia A in 40 Italian patients: a novel G-to-A mutation in intron 10 of the F8 gene as a putative cause of mild hemophilia A in southern Italy.. Blood Coagul. Fibrinolysis. 2008; 19(3):197-202 |
References
Acquila M, Pasino M, Lanza T, Bottini F, Molinari AC, Bicocchi MP, Duplication of exon 13 causes one third of the cases of mild hemophilia A in northern Italy.Haematologica. 2004; 89(6):758-9
Santacroce R, Santoro R, Sessa F, Iannaccaro P, Sarno M, Longo V, Gallone A, Vecchione G, Muleo G, Margaglione M, Screening of mutations of hemophilia A in 40 Italian patients: a novel G-to-A mutation in intron 10 of the F8 gene as a putative cause of mild hemophilia A in southern Italy.Blood Coagul. Fibrinolysis. 2008; 19(3):197-202