SpringerProtocols: Abstract: Mutation Detection in Factor VIII cDNA from Lymphocytes of Hemophilia A Patients by Solid Phase Fluorescent Chemical Cleavage of Mismatch

Mutation Detection in Factor VIII cDNA from Lymphocytes of Hemophilia A Patients by Solid Phase Fluorescent Chemical Cleavage of Mismatch

By: Naushin H. Waseem³, Richard Bagnall⁴, Peter M. Green⁵, Francesco Giannelli⁶

Abstract

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Defects of the factor VIII gene causes (f8) hemophilia A, an hemorrhagic X-linked disorder. The factor VIII gene is 186 kb long with 26 exons, varying from 69 bp (exon 5) to 3106 bp (exon 14) (1). The factor VIII mRNA is 9028 bases in length with a coding region of 7053 nucleotides (2).

Affiliation(s): (3) Division of Medical and Molecular Genetics, GKT School of Medicine, Guy’s Hospital, London, UK
(4) Division of Medical and Molecular Genetics, GKT School of Medicine, Guy’s Hospital, London, UK
(5) Division of Medical and Molecular Genetics, GKT School of Medicine, Guy’s Hospital, London, UK
(6) Division of Medical and Molecular Genetics, GKT School of Medicine, Guy’s Hospital, London, UK

Book Title: PCR Mutation Detection Protocols

Series: Methods in Molecular Biology | Volume: 187 | Pub. Date: Apr-04-2002 | Page Range: 109-124 | DOI: 10.1385/1-59259-273-2:109

Subject: Genetics/Genomics

References

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