Defects in Na+/glucose cotransporter (SGLT1) trafficking and function cause glucose-galactose malabsorption

A catalogue of splice junction sequences

Stephen M. Mount · Nucleic Acids Research · 1982 · 3.9K citations · Full text

Life Sciences, Molecular Biology, Molecular Genetics +14

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

A general method of<i>in vitro</i>preparation and specific mutagenesis of DNA fragments: study of protein and DNA interactions

Russell Higuchi, Barbara Krummel, Randall K. Saiki · Nucleic Acids Research · 1988 · 2.4K citations · Full text

Life Sciences, Genetics, Molecular Biology +12

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequences

Michael Krawczak, Jochen Reiss, D.N. Cooper · Human Genetics · 1992 · 1.4K citations

Life Sciences, Genetics, Molecular Genetics +17

The metabolic basis of inherited disease

JL Goldstein · Medical Entomology and Zoology · 1995 · 1K citations

Life Sciences, Genetics, Molecular Genetics +13