Recent advances in the diagnosis of malignant hyperthermia susceptibility: how confident can we be of genetic testing? (Q44407009)

2 December 2017

title

Recent advances in the diagnosis of malignant hyperthermia susceptibility: how confident can we be of genetic testing? (English)

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2 December 2017

main subject

malignant hyperthermia

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Robinson RL

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2 December 2017

Anetseder MJ

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Brancadoro V

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van Broekhoven C

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Carsana A

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Censier K

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Girard T

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Heytens L

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Hopkins PM

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Jurkat-Rott K

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Klinger W

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Kozak-Ribbens G

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Krivosic R

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Monnier N

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Nivoche Y

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Olthoff D

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Rueffert H

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Tegazzin V

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Mueller CR

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publication date

1 April 2003

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European Journal of Human Genetics

2 December 2017

published in

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2 December 2017

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2 December 2017

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2 December 2017

page(s)

342-348

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Malignant hyperthermia: advances in clinical management and diagnosis

2 December 2017

cites work

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Endocrine and metabolic disorders in anaesthesia and intensive care

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7 January 2021

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7 January 2021

Polymorphisms and deduced amino acid substitutions in the coding sequence of the ryanodine receptor (RYR1) gene in individuals with malignant hyperthermia

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7 January 2021

Detection of a novel RYR1 mutation in four malignant hyperthermia pedigrees

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7 January 2021

The substitution of Arg for Gly2433 in the human skeletal muscle ryanodine receptor is associated with malignant hyperthermia

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7 January 2021

Mutation screening of the RYR1 gene in malignant hyperthermia: detection of a novel Tyr to Ser mutation in a pedigree with associated central cores

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7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5200964

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2 December 2017

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