(Q55041892)

16 June 2018

title

Deletion of Glu at codon 13 of the TCAP gene encoding the titin-cap-telethonin is a rare polymorphism in a large Italian population. (English)

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16 June 2018

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5

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author name string

Marziliano N

1

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16 June 2018

Pilotto A

2

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16 June 2018

Grasso M

3

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16 June 2018

Pasotti M

4

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16 June 2018

publication date

2 May 2006

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16 June 2018

Molecular Genetics and Metabolism

published in

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16 June 2018

volume

89

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16 June 2018

issue

3

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16 June 2018

page(s)

286-287

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16 June 2018

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

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.03.012

Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.03.012

Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.03.012

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.2006.03.012

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.03.012

Synergistic heterozygosity: disease resulting from multiple partial defects in one or more metabolic pathways

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.03.012

10.1016/J.YMGME.2006.03.012

7 January 2021

Identifiers

DOI

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16 June 2018

PubMed ID

16650785

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16 June 2018