(Q55041631)

16 June 2018

title

Deletion of Glu at codon 13 in the TCAP gene encoding the Z-disc protein titin-cap/telethonin is a rare non-synonymous polymorphism. (English)

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16 June 2018

author name string

Andreas Perrot

series ordinal

1

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16 June 2018

Maximilian G Posch

series ordinal

2

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16 June 2018

Karl Josef Osterziel

series ordinal

3

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16 June 2018

publication date

21 February 2006

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16 June 2018

Molecular Genetics and Metabolism

published in

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16 June 2018

volume

88

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16 June 2018

issue

2

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16 June 2018

page(s)

199-200

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16 June 2018

Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.01.004

Prevalence of cardiac beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.01.004

Genetic and phenotypic analysis of dilated cardiomyopathy with conduction system disease: demand for strategies in the management of presymptomatic lamin A/C mutant carriers.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.01.004

Mutations in the human muscle LIM protein gene in families with hypertrophic cardiomyopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.01.004

Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.01.004

The Genetic Basis for Cardiomyopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.01.004

The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.01.004

The genetic basis for cardiomyopathy: from mutation identification to mechanistic paradigms

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.01.004

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1016/J.YMGME.2006.01.004

1 reference

16 June 2018

release_mtzmv5ay5zbbnaxdxy3g7rre74

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/mtzmv5ay5zbbnaxdxy3g7rre74

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

16 June 2018