Mutations inRYR1in malignant hyperthermia and central core disease-Reference-Cited by-同舟云学术

Mutations inRYR1in malignant hyperthermia and central core disease

Published:2006-10 Issue:10 Volume:27 Page:977-989
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Robinson Rachel,Carpenter Danielle,Shaw Marie-Anne,Halsall Jane,Hopkins Philip

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference122 articles.

1. The G1021A substitution in the RYR1 gene does not cosegregate with malignant hyperthermia susceptibility in a British pedigree;Adeokun;Am J Hum Genet,1997

2. A simple method to detect the RYR1 mutation G1021A, a cause of malignant hyperthermia susceptibility;Alestrom;Clin Genet,1995

3. Functional effects of central core disease mutations in the cytoplasmic region of the skeletal muscle ryanodine receptor;Avila;J Gen Physiol,2001

4. Excitation-contraction uncoupling by a human central core disease mutation in the ryanodine receptor;Avila;Proc Natl Acad Sci USA,2001

5. The pore region of the skeletal muscle ryanodine receptor is a primary locus for excitation-contraction uncoupling in central core disease;Avila;J Gen Physiol,2003

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