Phenylketonuria mutation in Chinese haplotype 44 identical with haplotype 2 mutation in northern-European Caucasians

DNA sequencing with chain-terminating inhibitors

Frederick Sanger, S. Nicklen, Alan Coulson · Proceedings of the National Academy of Sciences · 1977 · 69.3K citations · Full text

Life Sciences, Microbiology, Molecular Biology +10

Rapid and efficient site-specific mutagenesis without phenotypic selection.

Thomas A. Kunkel · Proceedings of the National Academy of Sciences · 1985 · 7.3K citations · Full text

Life Sciences, Biotechnology, Molecular Biology +15

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

Phenylpyruvic oligophrenia deficiency of phenylalanine-oxidizing system.

Jervis Ga · PubMed · 1953 · 197 citations

Life Sciences, Biochemistry, Mineral Metabolism +4

An ammo-acid substitution involved in phenylketonuria is in linkage disequilibrium with DNA haplotype 2

Anthony G. DiLella, Joshua Marvi, Kelly A. Brayton et al. · Nature · 1987 · 177 citations

Life Sciences, Genetics, Molecular Genetics +13