Non-isotopic detection of single strand conformation polymorphism (PCR-SSCP): a rapid and sensitive technique in diagnosis of phenylketonuria

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

1989 • 3,557 citations

Diagnostic single strand conformational polymorphism, (SSCP): a simplified non-radioisotopic method as applied to a Tay-Sachs B1 variant

1991 • 140 citations

Phenylketonuria: detection of a frequent haplotype 4 allele mutation

1989 • 47 citations

Phenylalanine hydroxylase gene: Novel missense mutation in exon 7 causing severe phenylketonuria

1991 • 46 citations

Phenylalanine hydroxylase gene: silent mutation uncovers evolutionary origin of different alleles

1990 • 16 citations