Genetic and functional analysis of the RYR1 mutation p.Thr84Met revealed a susceptibility to malignant hyperthermia.

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Genetic and functional analysis of the RYR1 mutation p.Thr84Met revealed a susceptibility to malignant hyperthermia.

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2018 nî lūn-bûn

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2018年の論文

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2018年学术文章

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2018年学术文章

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Genetic and functional analysi ...... ity to malignant hyperthermia.

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Genetic and functional analysi ...... ity to malignant hyperthermia.

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Genetic and functional analysi ...... ity to malignant hyperthermia.

@en

Genetic and functional analysi ...... ity to malignant hyperthermia.

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Genetic and functional analysi ...... ity to malignant hyperthermia.

@en

Genetic and functional analysi ...... ity to malignant hyperthermia.

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P1476

Genetic and functional analysi ...... ity to malignant hyperthermia.

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Hiroshi Hamada

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Hirotsugu Miyoshi

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Ichizo Nishino

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Keiko Mukaida

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Masashi Kawamoto

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Rieko Kanzaki

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Sachiko Otsuki

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P2860

Pathogenic mechanisms in centronuclear myopathies

Malignant hyperthermia: a review

Approach to the diagnosis of congenital myopathies

The amino-terminal disease hotspot of ryanodine receptors forms a cytoplasmic vestibule

MutationTaster evaluates disease-causing potential of sequence alterations

Diagnostic approach to the congenital muscular dystrophies.

RYR1 mutations causing central core disease are associated with more severe malignant hyperthermia in vitro contracture test phenotypes.

Ryanodine receptor 1 mutations, dysregulation of calcium homeostasis and neuromuscular disorders.

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

Malignant hyperthermia and the clinical significance of type-1 ryanodine receptor gene (RYR1) variants: proceedings of the 2013 MHAUS Scientific Conference.

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174-181

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scholarly article

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10.1007/S00540-018-2451-6

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P433

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P478

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Toshimichi Yasuda

Takashi Kondo

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2018-01-17T00:00:00Z

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P698

29344738

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