SCREENING FOR PHENYLKETONURIA MUTATIONS BY DNA AMPLIFICATION WITH THE POLYMERASE CHAIN REACTION

Enzymatic Amplification of β-Globin Genomic Sequences and Restriction Site Analysis for Diagnosis of Sickle Cell Anemia

Randall K. Saiki, Stephen J. Scharf, Fred Faloona et al. · Science · 1985 · 9K citations

Medicine, Genetics, Molecular Genetics +17

Analysis of enzymatically amplified β-globin and HLA-DQα DNA with allele-specific oligonucleotide probes

Randall K. Saiki, Teodorica L. Bugawan, Glenn T. Horn et al. · Nature · 1986 · 1.8K citations

Life Sciences, Genetics, Molecular Genetics +14

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

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

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