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

Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease

John M. Chirgwin, Alan Przybyla, Raymond J. MacDonald et al. · Biochemistry · 1979 · 22.2K citations

Life Sciences, Biochemistry, Molecular Biology +9

The Metabolic Basis of Inherited Disease.

Annals of Internal Medicine · 1988 · 7.8K citations

Life Sciences, Genetics, Molecular Genetics +13

The Metabolic Basis of Inherited Disease

Annals of Internal Medicine · 1990 · 4K citations

Life Sciences, Genetics, Molecular Genetics +13

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

Marvin B. Shapiro, Periannan Senapathy · Nucleic Acids Research · 1987 · 2.3K citations · Full text

Life Sciences, Bioinformatics, Genetics +16

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