Factor VIII gene mutations found by a comparative study of SSCP, DGGE and CMC and their analysis on a molecular model of factor VIII protein

Mutation in blood coagulation factor V associated with resistance to activated protein C

Rogier M. Bertina, Bobby P. C. Koeleman, Ted Koster et al. · Nature · 1994 · 3.8K citations

Genetics, Pathogenesis, Hematology +6

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

Masato Orita, Youichi Suzuki, Takao Sekiya et al. · Genomics · 1989 · 3.5K citations

Sensitive Detection, Polymerase Chain Reaction, Genetic Analysis +12

Familial thrombophilia due to a previously unrecognized mechanism characterized by poor anticoagulant response to activated protein C: prediction of a cofactor to activated protein C.

Björn Dahlbäck, Martin Carlsson, Peter J. Svensson · Proceedings of the National Academy of Sciences · 1993 · 2K citations · Full text

Immunology, Genetic Epidemiology, Pathology +21

Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants.

Louis M. Kunkel, Kirby D. Smith, Samuel H. Boyer et al. · Proceedings of the National Academy of Sciences · 1977 · 1.4K citations · Full text

Chromosome Variants, Genetic Testing, Cytogenetics +13

[31] Detection and localization of single base changes by denaturing gradient gel electrophoresis

R Myers, Tom Maniatis, Leonard S. Lerman · Methods in enzymology on CD-ROM/Methods in enzymology · 1987 · 935 citations

Engineering, Capillary Electrophoresis, Biochemistry +11