Identification of an altered splice site in Ashkenazi Tay-Sachs disease

DNA sequencing with chain-terminating inhibitors

Frederick Sanger, S. Nicklen, Alan Coulson · Proceedings of the National Academy of Sciences · 1977 · 69.1K citations · Full text

Dna, Engineering, Dna Analysis +20

Molecular Cloning. A Laboratory Manual

EJ Wood · Biochemical Education · 1983 · 30.6K citations

Molecular Biological Method, Natural Sciences, Genetics +8

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

Immunohematology, Genetic Testing, Genetics +20

The Metabolic Basis of Inherited Disease.

Annals of Internal Medicine · 1988 · 7.8K citations

Metabolic Syndrome, Energy Metabolism, Disease Mechanism +12

The Metabolic Basis of Inherited Disease.

Annals of Internal Medicine · 1983 · 2.7K citations

Metabolic Syndrome, Disease Mechanism, Metabolic Disorder +7