Doubly heterozygous LMNA and TTN mutations revealed by exome sequencing in a severe form of dilated cardiomyopathy (Q37186036)

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25 February 2020

title

Doubly heterozygous LMNA and TTN mutations revealed by exome sequencing in a severe form of dilated cardiomyopathy (English)

1 reference

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25 February 2020

main subject

dilated cardiomyopathy

1 reference

1 reference

3

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25 February 2020

Giovanna Lattanzi

4

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25 February 2020

Andreas Perrot

6

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25 February 2020

Laura Papa

8

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25 February 2020

Marta Columbaro

10

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25 February 2020

Giuseppe Faggian

12

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25 February 2020

Gianluigi Condorelli

13

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25 February 2020

Peter Robinson

14

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25 February 2020

author name string

Roberta Roncarati

1

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25 February 2020

Chiara Viviani Anselmi

2

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25 February 2020

Elisa di Pasquale

7

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25 February 2020

Paola Portararo

9

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25 February 2020

Alberto Forni

11

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25 February 2020

Yskert von Kodolitsch

5

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25 February 2020

language of work or name

1 reference

6 March 2013

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European Journal of Human Genetics

25 February 2020

published in

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25 February 2020

volume

21

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25 February 2020

page(s)

1105-1111

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25 February 2020

issue

10

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https://scigraph.springernature.com/pub.10.1038/ejhg.2013.16

25 February 2020

exact match

0 references

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Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2013.16

Long-Term Outcome and Risk Stratification in Dilated Cardiolaminopathies

21 January 2018

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Clinical Features and Outcome of Hypertrophic Cardiomyopathy Associated With Triple Sarcomere Protein Gene Mutations

21 January 2018

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Molecular and phenotypic effects of heterozygous, homozygous, and compound heterozygote myosin heavy-chain mutations

21 January 2018

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12 December 2020

Identification of novel mutations in LMNA associated with familial forms of dilated cardiomyopathy

1 reference

12 December 2020

A novel lamin A/C mutation in a family with dilated cardiomyopathy, prominent conduction system disease, and need for permanent pacemaker implantation

1 reference

12 December 2020

A novel titin mutation in adult-onset familial dilated cardiomyopathy

1 reference

12 December 2020

Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy

1 reference

12 December 2020

Identification of mutational hot spots in LMNA encoding lamin A/C in patients with familial dilated cardiomyopathy

1 reference

12 December 2020

Novel lamin A/C mutations in two families with dilated cardiomyopathy and conduction system disease

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12 December 2020

Identifiers

DOI

10.1038/EJHG.2013.16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23463027%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23463027%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

1 reference