(Q47908864)

English

A homozygous MYBPC3 gene mutation associated with a severe phenotype and a high risk of sudden death in a family with hypertrophic cardiomyopathy.

scientific article published in May 2009

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19406073%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

A homozygous MYBPC3 gene mutation associated with a severe phenotype and a high risk of sudden death in a family with hypertrophic cardiomyopathy (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19406073%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

Roberto Barriales-Villa

6

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19406073%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

author name string

Martín F Ortiz

1

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19406073%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

María Isabel Rodríguez-García

2

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19406073%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

Manuel Hermida-Prieto

3

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19406073%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

Xusto Fernández

4

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19406073%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

Elena Veira

5

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19406073%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

Alfonso Castro-Beiras

7

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19406073%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

Lorenzo Monserrat

8

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19406073%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

publication date

1 May 2009

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19406073%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

Revista Española de Cardiología

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19406073%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

62

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19406073%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

5

1 reference

Europe PubMed Central

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27 January 2020

572-575

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19406073%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

[Sudden death (V). Identification and treatment of patients with hypertrophic cardiomyopathy at risk of sudden death]

1 reference

https://api.crossref.org/works/10.1016%2FS1885-5857%2809%2971841-9

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular genetics of hypertrophic cardiomyopathy

1 reference

https://api.crossref.org/works/10.1016%2FS1885-5857%2809%2971841-9

7 January 2021

based on heuristic

inferred from DOI database lookup

Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy

1 reference

https://api.crossref.org/works/10.1016%2FS1885-5857%2809%2971841-9

7 January 2021

based on heuristic

inferred from DOI database lookup

Possible gene dose effect of a mutant cardiac beta-myosin heavy chain gene on the clinical expression of familial hypertrophic cardiomyopathy

1 reference

https://api.crossref.org/works/10.1016%2FS1885-5857%2809%2971841-9

7 January 2021

based on heuristic

inferred from DOI database lookup

Homozygous mutation in cardiac troponin T: implications for hypertrophic cardiomyopathy

1 reference

https://api.crossref.org/works/10.1016%2FS1885-5857%2809%2971841-9

7 January 2021

based on heuristic

inferred from DOI database lookup

Homozygotes for a R869G Mutation in the β -myosin Heavy Chain Gene have a Severe Form of Familial Hypertrophic Cardiomyopathy

1 reference

https://api.crossref.org/works/10.1016%2FS1885-5857%2809%2971841-9

7 January 2021

based on heuristic

inferred from DOI database lookup

Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling

1 reference

https://api.crossref.org/works/10.1016%2FS1885-5857%2809%2971841-9

7 January 2021

based on heuristic

inferred from DOI database lookup

Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy

1 reference

https://api.crossref.org/works/10.1016%2FS1885-5857%2809%2971841-9

7 January 2021

based on heuristic

inferred from DOI database lookup

[Beta-myosin heavy-chain gene mutations in patients with hypertrophic cardiomyopathy]

1 reference

https://api.crossref.org/works/10.1016%2FS1885-5857%2809%2971841-9

7 January 2021

based on heuristic

inferred from DOI database lookup

Homozygosity for a novel splice site mutation in the cardiac myosin-binding protein C gene causes severe neonatal hypertrophic cardiomyopathy

1 reference

https://api.crossref.org/works/10.1016%2FS1885-5857%2809%2971841-9

7 January 2021

based on heuristic

inferred from DOI database lookup

Hypertrophic cardiomyopathy linked to homozygosity for a new mutation in the myosin-binding protein C gene (A627V) suggests a dosage effect.

1 reference

https://api.crossref.org/works/10.1016%2FS1885-5857%2809%2971841-9

7 January 2021

based on heuristic

inferred from DOI database lookup

Hypertrophic cardiomyopathy: two homozygous cases with "typical" hypertrophic cardiomyopathy and three new mutations in cases with progression to dilated cardiomyopathy

1 reference

https://api.crossref.org/works/10.1016%2FS1885-5857%2809%2971841-9

7 January 2021

based on heuristic

inferred from DOI database lookup

Cardiac myosin binding protein C: its role in physiology and disease

1 reference

https://api.crossref.org/works/10.1016%2FS1885-5857%2809%2971841-9

7 January 2021

based on heuristic

inferred from DOI database lookup

Dilated cardiomyopathy in homozygous myosin-binding protein-C mutant mice

1 reference

https://api.crossref.org/works/10.1016%2FS1885-5857%2809%2971841-9

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1016/S1885-5857(09)71841-9

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19406073%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19406073%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

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