Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States.

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description

2013 nî lūn-bûn

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2013年の論文

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2013年論文

@yue

2013年論文

@zh-hant

2013年論文

@zh-hk

2013年論文

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2013年論文

@zh-tw

2013年论文

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2013年论文

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2013年论文

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name

Ryanodine receptor type 1 gene ...... pulation of the United States.

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type

Item

label

Ryanodine receptor type 1 gene ...... pulation of the United States.

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prefLabel

Ryanodine receptor type 1 gene ...... pulation of the United States.

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P1476

Ryanodine receptor type 1 gene ...... pulation of the United States.

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P2093

Barbara W Brandom

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Cynthia A Wong

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Georgirene D Vladutiu

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Mihaela Visoiu

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Nyamkhishig Sambuughin

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Paul J Isackson

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Saiid Bina

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Sheila M Muldoon

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Tarina Wallace

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P2860

Central core disease: clinical, pathological, and genetic features

Single-amino-acid deletion in the RYR1 gene, associated with malignant hyperthermia susceptibility and unusual contraction phenotype.

Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility.

Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeostasis.

Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene.

A clinical grading scale to predict malignant hyperthermia susceptibility.

The sensitivity and specificity of the caffeine-halothane contracture test: a report from the North American Malignant Hyperthermia Registry. The North American Malignant Hyperthermia Registry of MHAUS.

Central core disease is due to RYR1 mutations in more than 90% of patients.

Malignant hyperthermia in Japan: mutation screening of the entire ryanodine receptor type 1 gene coding region by direct sequencing.

Genetic risk for malignant hyperthermia in non-anesthesia-induced myopathies

P304

1078-1086

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scholarly article

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10.1213/ANE.0B013E31828A71FF

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English

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P478

116

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P577

2013-04-04T00:00:00Z

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23558838

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3633164

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