A prevalent missense mutation in Northern Europe associated with hyperphenylalaninaemia

[19] Rapid and efficient site-specific mutagenesis without phenotypic selection

Thomas A. Kunkel, John D. Roberts, Richard A. Zakour · Methods in enzymology on CD-ROM/Methods in enzymology · 1987 · 5.3K citations

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The Metabolic Basis of Inherited Disease

Annals of Internal Medicine · 1990 · 4K citations

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Electroporation for the efficient transfection of mammalian cells with DNA

Gilbert Chu, Hiroshi Hayakawa, Paul Berg · Nucleic Acids Research · 1987 · 849 citations · Full text

Life Sciences, Biotechnology, Molecular Biology +12

Cloned human phenylalanine hydroxylase gene allows prenatal diagnosis and carrier detection of classical phenylketonuria

Savio L.C. Woo, Alan S. Lidsky, Flemming Güttler et al. · Nature · 1983 · 337 citations

Life Sciences, Genetics, Molecular Genetics +16

Tight linkage between a splicing mutation and a specific DNA haplotype in phenylketonuria

Anthony G. DiLella, Joshua Marvit, Alan S. Lidsky et al. · Nature · 1986 · 248 citations

Life Sciences, Genetics, Molecular Genetics +14