(Q55670933)

1

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J M Healy

2

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K E Keating

3

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B M Manning

4

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L M Palmucci

6

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C Doriguzzi

7

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T H Fagerlund

8

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K Berg

9

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H Ording

https://scigraph.springernature.com/pub.10.1038/ng0993-51

10

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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)

51-5

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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 distribution of a novel ryanodine receptor/calcium release channel from rabbit brain.

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 of muscle: clinical, histochemical and electron microscopic studies of an affected mother and child

1 reference

7 January 2021

Central core disease. A correlated genetic, histochemical, ultramicroscopic, and biochemical study

1 reference

7 January 2021

Central core disease. Study of a family with five affected generations

1 reference

7 January 2021

Central core disease: ultrastructure of the sarcoplasmic reticulum and T-tubules

1 reference

7 January 2021

Central-core disease and malignant hyperpyrexia

1 reference

7 January 2021

A protocol for the investigation of malignant hyperpyrexia (MH) susceptibility. The European Malignant Hyperpyrexia Group

1 reference

7 January 2021

Malignant hyperthermia

1 reference

7 January 2021

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

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

Evidence for genetic heterogeneity in malignant hyperthermia susceptibility

1 reference

7 January 2021

Evidence for the localization of a malignant hyperthermia susceptibility locus (MHS2) to human chromosome 17q

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

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

1 reference

7 January 2021

Central core disease or not? Observations on a family with a non-progressive myopathy.

1 reference

7 January 2021

Central core disease: histochemical and ultrastructural study of muscle biopsies of father and daughter

1 reference

7 January 2021

Generation of single-stranded DNA by the polymerase chain reaction and its application to direct sequencing of the HLA-DQA locus

1 reference

7 January 2021

Improvement of PCR sequencing by formamide

1 reference

7 January 2021