Compound heterozygous CASQ2 mutations and long-term course of catecholaminergic polymorphic ventricular tachycardia.

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Compound heterozygous CASQ2 mutations and long-term course of catecholaminergic polymorphic ventricular tachycardia.

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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Compound heterozygous CASQ2 mu ...... rphic ventricular tachycardia.

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Compound heterozygous CASQ2 mu ...... rphic ventricular tachycardia.

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Compound heterozygous CASQ2 mu ...... rphic ventricular tachycardia.

@en

Compound heterozygous CASQ2 mu ...... rphic ventricular tachycardia.

@nl

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Compound heterozygous CASQ2 mu ...... rphic ventricular tachycardia.

@en

Compound heterozygous CASQ2 mu ...... rphic ventricular tachycardia.

@nl

P1476

Compound heterozygous CASQ2 mu ...... orphic ventricular tachycardia

@en

P2093

Christopher M Janson

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Cristina Montagna

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Katherine Josephs

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Kunjan Patel

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P2860

Catecholaminergic polymorphic ventricular tachycardia: An exciting new era

A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel

Calsequestrin 2 (CASQ2) mutations increase expression of calreticulin and ryanodine receptors, causing catecholaminergic polymorphic ventricular tachycardia

Calsequestrin mutations and catecholaminergic polymorphic ventricular tachycardia

The catecholaminergic polymorphic ventricular tachycardia mutation R33Q disrupts the N-terminal structural motif that regulates reversible calsequestrin polymerization

Arrhythmic disorder mapped to chromosome 1q42-q43 causes malignant polymorphic ventricular tachycardia in structurally normal hearts.

A case of catecholaminergic polymorphic ventricular tachycardia caused by two calsequestrin 2 mutations.

Catecholaminergic polymorphic ventricular tachycardia in children. A 7-year follow-up of 21 patients.

Development of a Targeted Multi-Disorder High-Throughput Sequencing Assay for the Effective Identification of Disease-Causing Variants.

Suppression of spontaneous ca elevations prevents atrial fibrillation in calsequestrin 2-null hearts.

P304

788-794

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P31

scholarly article

P356

10.1002/MGG3.323

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P433

http://www.w3.org/2001/XMLSchema#string

P478

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P50

Thomas V McDonald

P577

2017-08-22T00:00:00Z

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P698

29178653

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P921

catecholaminergic polymorphic ventricular tachycardia

P932

5702571

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