Functional analysis of RYR1 variants linked to malignant hyperthermia.

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Functional Characterization of C-terminal Ryanodine Receptor 1 Variants Associated with Central Core Disease or Malignant Hyperthermia How hot is it Down Under?Correlation of phenotype with genotype and protein structure in RYR1-related disorders

P2860

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P2860

Functional analysis of RYR1 variants linked to malignant hyperthermia.

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http://www.wikidata.org/entity/Q42000925

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2016 nî lūn-bûn

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2016年の論文

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2016年論文

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2016年論文

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2016年論文

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2016年論文

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2016年論文

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2016年论文

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2016年论文

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2016年论文

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Functional analysis of RYR1 variants linked to malignant hyperthermia.

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Functional analysis of RYR1 variants linked to malignant hyperthermia.

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label

Functional analysis of RYR1 variants linked to malignant hyperthermia.

@en

Functional analysis of RYR1 variants linked to malignant hyperthermia.

@nl

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Functional analysis of RYR1 variants linked to malignant hyperthermia.

@en

Functional analysis of RYR1 variants linked to malignant hyperthermia.

@nl

P1476

Functional analysis of RYR1 variants linked to malignant hyperthermia

@en

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Cornelia Roesl

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Dorota Miller

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Jeremy Stephens

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Kathryn Stowell

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Neil Pollock

http://www.w3.org/2001/XMLSchema#string

Sean Massey

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Terasa Bulger

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P2860

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

Malignant hyperthermia: update on susceptibility testing

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

Structure of the rabbit ryanodine receptor RyR1 at near-atomic resolution.

Genetic heterogeneity and HOMOG analysis in British malignant hyperthermia families

Malignant hyperthermia susceptibility arising from altered resting coupling between the skeletal muscle L-type Ca2+ channel and the type 1 ryanodine receptor

Regulation of calcium release by interdomain interaction within ryanodine receptors.

RYR1 mutations in UK central core disease patients: more than just the C-terminal transmembrane region of the RYR1 gene.

Next-generation Sequencing of RYR1 and CACNA1S in Malignant Hyperthermia and Exertional Heat Illness.

Regions of ryanodine receptors that influence activation by the dihydropyridine receptor β1a subunit

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328-339

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scholarly article

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10.1080/23328940.2016.1153360

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Anja H Schiemann

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2016-02-26T00:00:00Z

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27857962

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4964997

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Functional analysis of RYR1 variants linked to malignant hyperthermia.

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P2860

P2860

Functional analysis of RYR1 variants linked to malignant hyperthermia.

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P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698

P932