(Q85049088)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20851825%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

title

Germline and somatic mosaicism for a mutation of the ryanodine receptor type 2 gene: implication for genetic counselling and patient caring (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20851825%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20851825

16 July 2024

author name string

Nathalie Roux-Buisson

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20851825%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

Grégory Egéa

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20851825%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

Isabelle Denjoy

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20851825%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

Pascale Guicheney

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20851825%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

Joel Lunardi

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20851825%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

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=20851825

16 July 2024

publication date

17 September 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20851825%20AND%20SRC:MED&resulttype=core&format=json

full work available at URL

14 February 2020

https://academic.oup.com/europace/article-pdf/13/1/130/7275841/euq331.pdf

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20851825

http://europace.oxfordjournals.org/cgi/content/abstract/13/1/130

16 July 2024

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20851825

http://academic.oup.com/europace/article-pdf/13/1/130/7275841/euq331.pdf

16 July 2024

file format

Portable Document Format

1 reference

https://api.crossref.org/works/10.1093/EUROPACE/EUQ331

16 July 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20851825%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

volume

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20851825%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20851825%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

page(s)

130-132

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20851825%20AND%20SRC:MED&resulttype=core&format=json

Mutations of the cardiac ryanodine receptor (RyR2) gene in familial polymorphic ventricular tachycardia

14 February 2020

cites work

1

1 reference

https://api.crossref.org/works/10.1093/EUROPACE/EUQ331

A novel mutation in FKBP12.6 binding region of the human cardiac ryanodine receptor gene (R2401H) in a Japanese patient with catecholaminergic polymorphic ventricular tachycardia

16 July 2024

2

1 reference

https://api.crossref.org/works/10.1093/EUROPACE/EUQ331

The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading [...]

16 July 2024

3

1 reference

https://api.crossref.org/works/10.1093/EUROPACE/EUQ331

16 July 2024

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20851825%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

1 reference