A novel missense mutation in exon 4 of the factor VIII:C gene resulting in moderately severe hemophilia A.
نویسندگان
چکیده
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.
منابع مشابه
Novel Missense Mutation in Exon 4 of the Factor VIII : C Gene Resulting in Moderately Severe Hemophilia
H EMOPI-IILIA A, the most common congenital bleeding disorder, affects I in 10,000 to 20,000 males. The molecular lesions are heterogeneous and only I 0% of specific defects had been characterized so far. These included ddetions and point mutations.’ 8 Most of the point mutations detected involved the recognition site (TCGA) for the restriction enzyme Taq I and of these, most are associated wit...
متن کاملNovel Missense Mutation in Exon 4 of the Factor VIII : C Gene Resulting in Moderately Severe Hemophilia A
H EMOPI-IILIA A, the most common congenital bleeding disorder, affects I in 10,000 to 20,000 males. The molecular lesions are heterogeneous and only I 0% of specific defects had been characterized so far. These included ddetions and point mutations.’ 8 Most of the point mutations detected involved the recognition site (TCGA) for the restriction enzyme Taq I and of these, most are associated wit...
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عنوان ژورنال:
- Blood
دوره 74 8 شماره
صفحات -
تاریخ انتشار 1989