Phenylketonuria in Spain: RFLP haplotypes and linked mutations

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

A rapid procedure for extracting genomic DNA from leukocytes

Simon W. M. John, Gabriel Weitzner, Rima Rozen et al. · Nucleic Acids Research · 1991 · 397 citations · Full text

Life Sciences, Genetics, Molecular Biology +7

Nucleotide sequence of a full-length complementary DNA clone and amino acid sequence of human phenylalanine hydroxylase

Simon C.M. Kwok, Fred D. Ledley, Anthony G. DiLella et al. · Biochemistry · 1985 · 323 citations

Life Sciences, Biochemistry, Molecular Biology +10

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

Molecular Basis of Phenotypic Heterogeneity in Phenylketonuria

Yoshiyuki Okano, Randy C. Eisensmith, Flemming Güttler et al. · New England Journal of Medicine · 1991 · 239 citations

Life Sciences, Genetics, Molecular Genetics +16