Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects - Wikidata - wikimedia - TriplyDB

Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects

Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects

http://www.wikidata.org/entity/Q28250082

about

Targets for therapy in sarcomeric cardiomyopathies Tropomyosin 1: Multiple roles in the developing heart and in the formation of congenital heart defects The genetic landscape of cardiomyopathy and its role in heart failure.Clinical and molecular investigation of Buschke-Fischer-Brauer in consanguineous Tunisian families.Evaluation of MYBPC3 trans-Splicing and Gene Replacement as Therapeutic Options in Human iPSC-Derived Cardiomyocytes.Hypertrophic cardiomyopathy clinical phenotype is independent of gene mutation and mutation dosage.Exploring the landscape of pathogenic genetic variation in the ExAC population database: insights of relevance to variant classification.Dilated Cardiomyopathy: Genetic Determinants and Mechanisms.Association of Cardiomyopathy With MYBPC3 D389V and MYBPC3Δ25bpIntronic Deletion in South Asian Descendants.

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Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects

http://www.wikidata.org/entity/Q28250082

description

2015 nî lūn-bûn

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2015 թուականի Յուլիսին հրատարակուած գիտական յօդուած

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2015 թվականի հուլիսին հրատարակված գիտական հոդված

@hy

2015年の論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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2015年论文

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name

Compound heterozygous or homoz ...... ncompaction and septal defects

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Compound heterozygous or homoz ...... ncompaction and septal defects

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Compound heterozygous or homoz ...... ncompaction and septal defects

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type

label

Compound heterozygous or homoz ...... ncompaction and septal defects

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Compound heterozygous or homoz ...... ncompaction and septal defects

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Compound heterozygous or homoz ...... ncompaction and septal defects

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prefLabel

Compound heterozygous or homoz ...... ncompaction and septal defects

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Compound heterozygous or homoz ...... ncompaction and septal defects

@en

Compound heterozygous or homoz ...... ncompaction and septal defects

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European Journal of Human Genetics

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Compound heterozygous or homoz ...... ncompaction and septal defects

@en

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Arthur van den Wijngaard

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Dennis Dooijes

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Ingrid M Frohn-Mulder

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Irenaeus Fm de Coo

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Johanna C Herkert

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Marja W Wessels

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Michelle Michels

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Michiel Dalinghaus

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Ronald R de Krijger

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Yvonne M Hoedemaekers

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P2860

Mutation in myosin heavy chain 6 causes atrial septal defect

Alpha-cardiac actin mutations produce atrial septal defects

Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus

Novel splice donor site mutation in the cardiac myosin-binding protein-C gene in familial hypertrophic cardiomyopathy. Characterization Of cardiac transcript and protein

A newly created splice donor site in exon 25 of the MyBP-C gene is responsible for inherited hypertrophic cardiomyopathy with incomplete disease penetrance

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

Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype

Cardiac myosin-binding protein C mutations and hypertrophic cardiomyopathy: haploinsufficiency, deranged phosphorylation, and cardiomyocyte dysfunction

Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy

Shared genetic causes of cardiac hypertrophy in children and adults

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922-8

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scholarly article

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10.1038/EJHG.2014.211

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7

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23

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2015-07-01T00:00:00Z

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25335496

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4463499

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