Blood. 1989 Dec;74(8):2688-91.

A novel missense mutation in exon 4 of the factor VIII:C gene resulting in moderately severe hemophilia A.

University Department of Medicine, Queen Mary Hospital, Hong Kong.

A new point mutation due to C----T transition at codon 189 (TCA) of the factor VIII:C gene was found in a Chinese patient with moderately severe hemophilia A. This mutation abolishes the EcoRI site (GAATTC) in exon 4 and can be directly detected by polyacrylamide gel electrophoresis of amplified genomic DNA.

PMID: 2510835 [PubMed - indexed for MEDLINE]

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A directed search for mutations in hemophilia A using restriction enzyme analysis and denaturing gradient gel electrophoresis. A study of seven exons in the factor VIII gene of 170 cases.
Nouv Rev Fr Hematol. 1992; 34(1):85-91.

[Nouv Rev Fr Hematol. 1992]
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Hum Genet. 1989 Mar; 81(4):335-8.

[Hum Genet. 1989]
Recurrent mutations and three novel rearrangements in the factor VIII gene of hemophilia A patients of Italian descent.
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[Blood. 1990]
ReviewMolecular genetics of coagulation factor VIII gene and hemophilia A.
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[Thromb Haemost. 1995]
ReviewMolecular etiology of factor VIII deficiency in hemophilia A.
Hum Mutat. 1995; 5(1):1-22.

[Hum Mutat. 1995]
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[Proc Natl Acad Sci U S A. 1999]
Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition.
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[Nucleic Acids Res. 1994]
Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition.
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[Nucleic Acids Res. 1994]
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Patient drug information

Antihemophilic Factor (Human) (Alphanate®, Hemofil® M Method M Monoclonal Purified, Humate-P®, ...)
Your doctor has ordered antihemophilic factor (human), an antihemophilic factor, to help your blood to clot. The drug will be either injected directly into your vein or added to an intravenous fluid that will drip throug...
Source: AHFS Consumer Medication Information

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A novel missense mutation in exon 4 of the factor VIII:C gene resulting in moderately severe hemophilia A.

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