(Q55670932)

1

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H S Chen

2

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V K Khanna

3

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S De Leon

4

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M S Phillips

5

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K Schappert

6

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B A Britt

7

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A K Browell

8

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D H MacLennan

https://scigraph.springernature.com/pub.10.1038/ng0993-46

9

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language of work or name

English

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publication date

September 1993

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published in

Nature Genetics

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volume

5

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page(s)

46-50

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issue

1

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exact match

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cites work

Malignant Hyperthermia and Central Core Disease in a Child With Congenital Dislocating Hips

1 reference

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

21 January 2018

1 reference

Ryanodine receptor gene is a candidate for predisposition to malignant hyperthermia.

21 January 2018

1 reference

Localization of the malignant hyperthermia susceptibility locus to human chromosome 19q12-13.2.

21 January 2018

1 reference

Opening the gates on ion channel diseases

21 January 2018

1 reference

Intracellular calcium homeostasis

21 January 2018

1 reference

Mitochondrial calcium overload: A general mechanism for cell-necrosis in muscle diseases

21 January 2018

1 reference

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

21 January 2018

1 reference

A new congenital non-progressive myopathy

21 January 2018

1 reference

7 January 2021

Central core disease: clinical and pathological evidence of progression within a family

1 reference

7 January 2021

Central core disease of muscle with focal wasting

1 reference

7 January 2021

Central-core disease and malignant hyperpyrexia

1 reference

7 January 2021

Central core disease and malignant hyperthermia syndrome

1 reference

7 January 2021

Malignant hyperthermia: relationship to other diseases

1 reference

7 January 2021

Identification of a Mutation in Porcine Ryanodine Receptor Associated with Malignant Hyperthermia

1 reference

7 January 2021

Cosegregation of porcine malignant hyperthermia and a probable causal mutation in the skeletal muscle ryanodine receptor gene in backcross families

1 reference

7 January 2021

A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia

1 reference

7 January 2021

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

1 reference

7 January 2021

Assignment of the gene for central core disease to chromosome 19

1 reference

7 January 2021

Evidence for linkage of the central core disease locus to the proximal long arm of human chromosome 19.

1 reference

7 January 2021

Refinement of diagnostic assays for a probable causal mutation for porcine and human malignant hyperthermia.

1 reference

7 January 2021

Electrophoresis of muscle proteins is not a method for diagnosis of malignant hyperthermia susceptibility.

1 reference

7 January 2021

A cysteine-for-arginine substitution (R614C) in the human skeletal muscle calcium release channel cosegregates with malignant hyperthermia

1 reference

7 January 2021

Evidence for genetic heterogeneity in malignant hyperthermia susceptibility

1 reference

7 January 2021

Malignant hyperthermia

1 reference

7 January 2021

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

7 January 2021