Detection of Factor VIII Gene Mutations by High-Resolution Melting Analysis | Zendy

Andrew D. Laurie | Zendy; Mark P. Smith | Zendy; Peter M. George | Zendy

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Detection of Factor VIII Gene Mutations by High-Resolution Melting Analysis

Author(s) -

Andrew D. Laurie,

Mark P. Smith,

Peter M. George

Publication year - 2007

Publication title -

clinical chemistry

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.705

H-Index - 218

eISSN - 1530-8561

pISSN - 0009-9147

DOI - 10.1373/clinchem.2007.093781

Subject(s) - high resolution melt , amplicon , melting curve analysis , mutation , gene , genetics , gene mutation , polymerase chain reaction , biology , microbiology and biotechnology , mutation testing

Single base-pair substitution mutations in the gene for coagulation factor VIII, procoagulant component (hemophilia A) (F8) account for approximately 50% of severe cases of hemophilia A (HA), and almost all moderate or mild cases. Because F8 is a large gene, mutation screening using denaturing HPLC or DNA sequencing is time-consuming and expensive.

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