High prevalence of a point mutation in the porphobilinogen deaminase gene in Dutch patients with acute intermittent porphyria

Primer-Directed Enzymatic Amplification of DNA with a Thermostable DNA Polymerase

Randall K. Saiki, David H. Gelfand, Susanne Stoffel et al. · Science · 1988 · 17.2K citations

Life Sciences, Biotechnology, Molecular Biology +12

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

Masato Orita, Youichi Suzuki, Takao Sekiya et al. · Genomics · 1989 · 3.5K citations

Life Sciences, Genetics, Molecular Genetics +16

Direct solid phase sequencing of genomic and plasmid DNA using magnetic beads as solid support

Thomas Hultman, Stefan Ståhl, Erik Homes et al. · Nucleic Acids Research · 1989 · 732 citations · Full text

Life Sciences, Biotechnology, Molecular Biology +9

Tissue-specific splicing mutation in acute intermittent porphyria.

Bernard Grandchamp, C. Picat, Vincent Mignotte et al. · Proceedings of the National Academy of Sciences · 1989 · 123 citations · Full text

Life Sciences, Genetics, Molecular Biology +16

A point mutation G—A in exon 12 of the porphoblllnogen deaminase gene results in exon skipping and is responsible for acute intermittent porphyria

Bernard Grandchamp, C. Picat, Felix de Rooij et al. · Nucleic Acids Research · 1989 · 118 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15