Whole exome sequencing identifies a troponin T mutation hot spot in familial dilated cardiomyopathy (Q35036043)

5 August 2017

title

Whole exome sequencing identifies a troponin T mutation hot spot in familial dilated cardiomyopathy (English)

1 reference

5 August 2017

Luisa Mestroni

11

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Gianfranco Sinagra

object named as

Gianfranco Sinagra

2

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Pamela R Fain

8

object named as

Pamela R Fain

1 reference

5 August 2017

Nzali Campbell

1

1 reference

5 August 2017

Kenneth L Jones

3

1 reference

5 August 2017

Dobromir Slavov

4

1 reference

5 August 2017

Katherine Gowan

5

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5 August 2017

Marco Merlo

6

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5 August 2017

Elisa Carniel

7

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5 August 2017

Pierluigi Aragona

9

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5 August 2017

Andrea Di Lenarda

10

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5 August 2017

Matthew R G Taylor

12

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5 August 2017

language of work or name

English

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publication date

29 October 2013

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5 August 2017

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5 August 2017

volume

8

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5 August 2017

issue

10

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5 August 2017

page(s)

e78104

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Creative Commons Attribution 4.0 International

5 August 2017

copyright license

start time

29 October 2013

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April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

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Homozygosity mapping and exome sequencing reveal GATAD1 mutation in autosomal recessive dilated cardiomyopathy

8 July 2018

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Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband

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Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy

8 July 2018

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Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype.

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Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy

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Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy

8 July 2018

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8 July 2018

Dilated cardiomyopathy

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8 July 2018

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Clinical and functional characterization of TNNT2 mutations identified in patients with dilated cardiomyopathy

8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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A new ocular phenotype associated with an unexpected but known systemic disorder and mutation: novel use of genomic diagnostics and exome sequencing.

8 July 2018

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25 October 2018

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25 October 2018

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Novel troponin T mutation in familial dilated cardiomyopathy with gender-dependant severity

25 October 2018

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Frequency and phenotypes of familial dilated cardiomyopathy.

25 October 2018

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25 October 2018

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Genetic variation screening of TNNT2 gene in a cohort of patients with hypertrophic and dilated cardiomyopathy

25 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24205113

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Epidemiology of idiopathic dilated and hypertrophic cardiomyopathy. A population-based study in Olmsted County, Minnesota, 1975-1984

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24205113

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Use of genetics in the clinical evaluation of cardiomyopathy

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24205113

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PONE.0078104

1 reference

5 August 2017

0 references

1 reference

5 August 2017

1 reference