A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia (Q34669941)

3 August 2017

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

1 reference

3 August 2017

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90084-R

20 November 2022

2

K. Otsu

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1774074

20 November 2022

author name string

de Leon S

5

1 reference

3 August 2017

MacLennan DH

10

1 reference

3 August 2017

E. F. Gillard

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1774074

20 November 2022

J. Fujii

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1774074

20 November 2022

V. K. Khanna

4

1 reference

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20 November 2022

S. de Leon

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1774074

20 November 2022

J. Derdemezi

6

1 reference

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20 November 2022

B. A. Britt

7

1 reference

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20 November 2022

C. L. Duff

8

1 reference

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20 November 2022

R. G. Worton

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1774074

20 November 2022

D. H. MacLennan

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1774074

20 November 2022

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1774074

20 November 2022

publication date

1 November 1991

1 reference

full work available at URL

3 August 2017

https://api.elsevier.com/content/article/PII:088875439190084R?httpAccept=text/xml

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90084-R

https://api.elsevier.com/content/article/PII:088875439190084R?httpAccept=text/plain

20 November 2022

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90084-R

20 November 2022

1 reference

3 August 2017

11

1 reference

3 August 2017

3

1 reference

3 August 2017

751-755

1 reference

Abnormal ryanodine receptor channels in malignant hyperthermia

3 August 2017

3

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90084-R

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

20 November 2022

4

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90084-R

Assignment of the porcine calcium release channel gene, a candidate for the malignant hyperthermia locus, to the 6p11----q21 segment of chromosome 6.

20 November 2022

5

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90084-R

A simple method for subcloning DNA fragments from gel slices

20 November 2022

6

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90084-R

An improved method for prenatal diagnosis of genetic diseases by analysis of amplified DNA sequences. Application to hemophilia A.

20 November 2022

7

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90084-R

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

20 November 2022

9

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90084-R

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

20 November 2022

10

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90084-R

Calcium-induced Ca2+ release from sarcoplasmic reticulum of pigs susceptible to malignant hyperthermia. The effects of halothane and dantrolene.

20 November 2022

11

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90084-R

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

20 November 2022

12

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90084-R

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

20 November 2022

13

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90084-R

An improved method for directly sequencing PCR amplified material using dimethyl sulphoxide

20 November 2022

14

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90084-R

20 November 2022

Identifiers

1 reference

3 August 2017

1 reference