Blind Analysis of Denaturing High-Performance Liquid Chromatography as a Tool for Mutation Detection

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

Life Sciences, Genetics, Molecular Genetics +16

Familial Hemiplegic Migraine and Episodic Ataxia Type-2 Are Caused by Mutations in the Ca2+ Channel Gene CACNL1A4

Roel A. Ophoff, Gisela M. Terwindt, Monique N. Vergouwe et al. · Cell · 1996 · 2.3K citations · Full text

Life Sciences, Neurology, Neuroscience +16

The Sensitivity of Single-Strand Conformation Polymorphism Analysis for the Detection of Single Base Substitutions

Val C. Sheffield, John S. Beck, Anne E. Kwitek et al. · Genomics · 1993 · 675 citations

Life Sciences, Genetics, Molecular Genetics +8

Complete nucleotide sequences of the gene for human factor IX (antihemophilic factor B)

Shinji Yoshitake, Barbara G. Schach, Donald C. Foster et al. · Biochemistry · 1985 · 667 citations

Life Sciences, Genetics, Molecular Biology +6

Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations.

Richard G.H. Cotton, Nanda R. Rodrigues, R. Duncan Campbell · Proceedings of the National Academy of Sciences · 1988 · 625 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +14