(Q35194440)

7 August 2017

Refined genetic localization for central core disease (English)

1 reference

7 August 2017

9

Couch FJ

1 reference

7 August 2017

Mulley JC

1

1 reference

7 August 2017

Kozman HM

2

1 reference

7 August 2017

Phillips HA

3

1 reference

7 August 2017

Gedeon AK

4

1 reference

7 August 2017

McCure JA

5

1 reference

7 August 2017

Iles DE

6

1 reference

7 August 2017

Gregg RG

7

1 reference

7 August 2017

Hogan K

8

1 reference

7 August 2017

MacLennan DH

10

1 reference

7 August 2017

language of work or name

English

0 references

publication date

1 February 1993

1 reference

American Journal of Human Genetics

7 August 2017

1 reference

7 August 2017

52

1 reference

7 August 2017

398-405

1 reference

7 August 2017

2

1 reference

Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction

7 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682183

Dinucleotide repeat polymorphism at the D19S75 locus

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682183

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682183

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682183

Dinucleotide repeat polymorphism at the RYR1 locus (19q13.1).

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682183

Predictive diagnosis of myotonic dystrophy with flanking microsatellite markers

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682183

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682183

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682183

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682183

Evidence for genetic heterogeneity in malignant hyperthermia susceptibility

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682183

Evidence for genetic heterogeneity of malignant hyperthermia susceptibility

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682183

Dinucleotide repeat polymorphism at the D19S191 locus

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682183

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682183

High-resolution physical mapping of four microsatellite repeat markers near the RYR1 locus on chromosome 19q13.1 and apparent exclusion of the MHS locus from this region in two malignant hyperthermia susceptible families

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682183

Strategies for multilocus linkage analysis in humans

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682183

Easy calculations of lod scores and genetic risks on small computers

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682183

Genetic recombination between malignant hyperthermia and calcium release channel in skeletal muscle

27 September 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Linkage and genetic counselling for the fragile X using DNA probes 52A, F9, DX13, and ST14

1 reference

12 December 2020

Assignment of the gene for central core disease to chromosome 19

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

PMCID

1682183

1 reference

7 August 2017

1 reference