The G1021A substitution in the RYR1 gene does not cosegregate with malignant hyperthermia susceptibility in a British pedigree.

A single base change in the RYR1 gene encoding the skeletal muscle ryanodine receptor (calcium-sensitive calcium-release channel of the sarcoplasmic reticulum), resulting in the substitution of G1021 by A, has been proposed to underlie malignant-hyperthermia (MH) susceptibility in as many as 10% of...

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Hlavní autoři: Adeokun, A M, West, S P, Ellis, F R, Halsall, P J, Hopkins, P M, Foroughmand, A M, Iles, D E, Robinson, R L, Stewart, A D, Curran, J L
Médium: Artigo
Jazyk:Inglês
Vydáno: 1997
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1712455/
https://ncbi.nlm.nih.gov/pubmed/9106529
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