Characterization of mutations in the factor VIII gene by direct sequencing of amplified genomic DNA.

doi:10.1016/0888-7543(90)90448-4

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Article

Characterization of mutations in the factor VIII gene by direct sequencing of amplified genomic DNA.

Genomics - 1 Jan 1990

Higuchi M, Wong C, Kochhan L, Olek K, Aronis S, Kasper C K, Kazazian H H, Antonarakis S E

Abstract excerpt

In order to search for mutations resulting in hemophilia A that are not detectable by restriction analysis, three regions of the factor VIII gene were chosen for direct sequence analysis. Short segments of genomic DNA of 127 unrelated patients with hemophilia A were amplified by polymerase chain...

Topics

Base Sequence
Chromosome Mapping
Factor VIII
Gene Amplification
Hemophilia A
Humans
Molecular Sequence Data
Mutation
Polymerase Chain Reaction
Polymorphism, Genetic
Promoter Regions, Genetic

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