High proportion of genetic cases in patients with advanced cardiomyopathy including a novel homozygous Plakophilin 2-gene mutation

scientific article published on 18 December 2017

High proportion of genetic cases in patients with advanced cardiomyopathy including a novel homozygous Plakophilin 2-gene mutation is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1371/JOURNAL.PONE.0189489
P932PMC publication ID5734774
P698PubMed publication ID29253866

P50authorAnna GaertnerQ57005415
Lech PaluszkiewiczQ89985435
Baerbel KlaukeQ96252671
Eugen SandicaQ130271573
P2093author name stringUwe Schulz
J Peter van Tintelen
Jan Gummert
Deniz Kececioglu
Ute Blanz
Hendrik Milting
Astrid Kassner
Antoon J van den Bogaerdt
Edzard Zu Knyphausen
Thorsten Laser
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Combination of Whole Genome Sequencing, Linkage, and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy With Features of Left Ventricular Noncompaction.Q37346547
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Truncating titin mutations are associated with a mild and treatable form of dilated cardiomyopathyQ39215711
Clinical Presentation, Long-Term Follow-Up, and Outcomes of 1001 Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Patients and Family MembersQ41144205
Characterization of the molecular phenotype of two arrhythmogenic right ventricular cardiomyopathy (ARVC)-related plakophilin-2 (PKP2) mutationsQ41941316
Stress-induced dilated cardiomyopathy in a knock-in mouse model mimicking human titin-based disease.Q42160059
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The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencingQ43962585
Titin mutation in familial restrictive cardiomyopathyQ45014249
C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathyQ48080069
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Genetic basis of familial dilated cardiomyopathy patients undergoing heart transplantationQ50254257
P275copyright licenseCreative Commons Attribution 4.0 InternationalQ20007257
P6216copyright statuscopyrightedQ50423863
P433issue12
P407language of work or nameEnglishQ1860
P921main subjecthomozygosityQ114049690
P304page(s)e0189489
P577publication date2017-12-18
P1433published inPLOS OneQ564954
P1476titleHigh proportion of genetic cases in patients with advanced cardiomyopathy including a novel homozygous Plakophilin 2-gene mutation
P478volume12

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Q64068696A step towards understanding the molecular nature of human heart failure: advances using the Sydney Heart Bank collection
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