Detection of mutations in human genes by a new rapid method: cleavage fragment length polymorphism analysis (CFLPA)

Molecular cloning: A laboratory manual

Prescott L. Deininger · Analytical Biochemistry · 1990 · 86.2K citations

Life Sciences, Molecular Biology, Molecular Genetics +11

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

Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia

Rita Shiang, Leslie M. Thompson, Yazhen Zhu et al. · Cell · 1994 · 1.3K citations

Life Sciences, Genetics, Molecular Genetics +13

DNA fragments differing by single base-pair substitutions are separated in denaturing gradient gels: correspondence with melting theory.

S G Fischer, Leonard S. Lerman · Proceedings of the National Academy of Sciences · 1983 · 891 citations · Full text

Life Sciences, Molecular Biology, Dna Replication +10

Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients

Michael Dean, Marga Belle White, Jean Amos et al. · Cell · 1990 · 348 citations

Life Sciences, Genetics, Molecular Genetics +11