Geographical distribution gradients of the major PKU mutations and the linked haplotypes

Synthetic Maps of Human Gene Frequencies in Europeans

Paolo Menozzi, Alberto Piazza, L. Luca Cavalli-Sforza · Science · 1978 · 660 citations

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 · 247 citations

Specific Dna Haplotype, Genetic Disorder, Genetics +9

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

Linkage Disequilibrium, Ammo-acid Substitution, Biochemistry +10

Extensive restriction site polymorphism at the human phenylalanine hydroxylase locus and application in prenatal diagnosis of phenylketonuria.

Alan S. Lidsky, Fred D. Ledley, Anthony G. DiLella et al. · PubMed · 1985 · 152 citations

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

Anthony G. DiLella · The Lancet · 1988 · 134 citations

Genetic Disorder, Medicine, Genetics +9