Concepedia

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

Elizabeth F. Gillard, Kinya Otsu, Junichi Fujii, Vijay K. Khanna, Stella de Leon, Jeanette Derdemezi, Beverley A. Britt, Catherine Duff, Ronald G. Worton, David H. MacLennan

Genomics · 1991 · 317 citations · 16 references

DOI

Concepts

References

16

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 · 20.6K citations · Full text

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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

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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

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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

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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

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