Haplotype distribution and mutations at the PAH locus in Croatia

An Improved Method for Prenatal Diagnosis of Genetic Diseases by Analysis of Amplified DNA Sequences

Scott C. Kogan, Marie Doherty, Jane Gitschier · New England Journal of Medicine · 1987 · 806 citations

Life Sciences, Genetics, Obstetrics +10

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

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