A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia

A simple salting out procedure for extracting DNA from human nucleated cells

S.A. Miller, Dale D. Dykes, Herbert F. Polesky · Nucleic Acids Research · 1988 · 20.4K citations · Full text

Chromatin, Dna Sequencing, Molecular Biological Method +11

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

Randall K. Saiki, David H. Gelfand, Susanne Stoffel et al. · Science · 1988 · 17.1K citations

Engineering, Dna Analysis, Molecular Biology +19

Identification of a Mutation in Porcine Ryanodine Receptor Associated with Malignant Hyperthermia

Junichi Fujii, Kinya Otsu, Francesco Zorzato et al. · Science · 1991 · 1.5K citations

An Improved Method for Prenatal Diagnosis of Genetic Diseases by Analysis of Amplified DNA Sequences

Scott C. Kogan, Marie Doherty, Jane Gitschier · New England Journal of Medicine · 1987 · 806 citations

Genetic Testing, Improved Method, Genetics +26

Molecular cloning of cDNA encoding human and rabbit forms of the Ca2+ release channel (ryanodine receptor) of skeletal muscle sarcoplasmic reticulum.

Francesco Zorzato, Junichi Fujii, Kinya Otsu et al. · Journal of Biological Chemistry · 1990 · 650 citations · Full text

Protein Secretion, Muscle Function, Ca2+ Release Channel +21