Multigenerational Brazilian family with malignant hyperthermia and a novel mutation in the RYR1 gene.

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Ryanodine receptor type 1 gene mutations found in the Canadian malignant hyperthermia population.

P2860

Q46051563-A18917E1-476F-407E-A3C7-D138FA3DA23F

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Multigenerational Brazilian family with malignant hyperthermia and a novel mutation in the RYR1 gene.

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http://www.wikidata.org/entity/Q43240775

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2009 nî lūn-bûn

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2009年の論文

@ja

2009年学术文章

@wuu

2009年学术文章

@zh

2009年学术文章

@zh-cn

2009年学术文章

@zh-hans

2009年学术文章

@zh-my

2009年学术文章

@zh-sg

2009年學術文章

@yue

2009年學術文章

@zh-hant

name

Multigenerational Brazilian fa ...... vel mutation in the RYR1 gene.

@en

Multigenerational Brazilian fa ...... vel mutation in the RYR1 gene.

@nl

type

Item

label

Multigenerational Brazilian fa ...... vel mutation in the RYR1 gene.

@en

Multigenerational Brazilian fa ...... vel mutation in the RYR1 gene.

@nl

prefLabel

Multigenerational Brazilian fa ...... vel mutation in the RYR1 gene.

@en

Multigenerational Brazilian fa ...... vel mutation in the RYR1 gene.

@nl

P1476

Multigenerational Brazilian fa ...... vel mutation in the RYR1 gene.

@en

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A R Matos

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G Zapata-Sudo

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L B P Cunha

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N D Amoedo

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N Sambuughin

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R T Sudo

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P2860

Assignment of the human gene for the alpha 1 subunit of the skeletal muscle DHP-sensitive Ca2+ channel (CACNL1A3) to chromosome 1q31-q32

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

Genetics and pathogenesis of malignant hyperthermia.

Ryanodine receptor mutations in malignant hyperthermia and central core disease.

Functional calcium release channel formed by the carboxyl-terminal portion of ryanodine receptor

Topology of the Ca2+ release channel of skeletal muscle sarcoplasmic reticulum (RyR1).

Localization of the gene encoding the alpha 2/delta-subunits of the L-type voltage-dependent calcium channel to chromosome 7q and analysis of the segregation of flanking markers in malignant hyperthermia susceptible families.

Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia.

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

Primary structure and expression from complementary DNA of skeletal muscle ryanodine receptor.

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1218-1224

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scholarly article

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10.1590/S0100-879X2009007500011

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English

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P478

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Franklin D Rumjanek

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2009-11-13T00:00:00Z

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P698

19918671

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Multigenerational Brazilian family with malignant hyperthermia and a novel mutation in the RYR1 gene.

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P2860

P2860

Multigenerational Brazilian family with malignant hyperthermia and a novel mutation in the RYR1 gene.

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type

label

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P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698