Novel PKU mutation on haplotype 2 in French-Canadians.

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

1985 • 9,128 citations

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

1986 • 1,863 citations

Characterization of β-thalassaemia mutations using direct genomic sequencing of amplified single copy DNA

1987 • 514 citations

Cloned human phenylalanine hydroxylase gene allows prenatal diagnosis and carrier detection of classical phenylketonuria

1983 • 334 citations

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

1985 • 325 citations

Tight linkage between a splicing mutation and a specific DNA haplotype in phenylketonuria

1986 • 249 citations

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

1987 • 178 citations

Molecular structure and polymorphic map of the human phenylalanine hydroxylase gene

1986 • 174 citations

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

1985 • 152 citations

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

1988 • 137 citations

Molecular genetics of phenylketonuria in Mediterranean countries: a mutation associated with partial phenylalanine hydroxylase deficiency.

1989 • 74 citations

Phenylalanine hydroxylase deficiency caused by a single base substitution in an exon of the human phenylalanine hydroxylase gene

1988 • 60 citations

Molecular Analysis of the Inheritance of Phenylketonuria and Mild Hyperphenylalaninemia in Families with Both Disorders

1986 • 56 citations

Clinical and molecular heterogeneity of phenylalanine hydroxylase deficiencies in France.

1988 • 42 citations

MENDELIAN HYPERPHENYLALANINEMIA

1988 • 35 citations

[Hyperphenylalaninemias. The Canadian and Quebec experience].

1987 • 2 citations