Role of Titin Missense Variants in Dilated Cardiomyopathy.
about
A Review of the Giant Protein Titin in Clinical Molecular Diagnostics of CardiomyopathiesGenetic epidemiology of titin-truncating variants in the etiology of dilated cardiomyopathy.Genetic determinants of myocardial dysfunction.Genetic Variants in Isolated Ebstein Anomaly Implicated in Myocardial Development Pathways.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.Targeted next-generation sequencing detects novel gene-phenotype associations and expands the mutational spectrum in cardiomyopathies.Whole Exome Sequencing Identifies Truncating Variants in Nuclear Envelope Genes in Patients With Cardiovascular Disease.Genetics of hypertrophic cardiomyopathy: A review of current state.Proteasome dysfunction in cardiomyopathies.Sudden cardiac death: focus on the genetics of channelopathies and cardiomyopathies.Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.The giant protein titin regulates the length of the striated muscle thick filament.High proportion of genetic cases in patients with advanced cardiomyopathy including a novel homozygous Plakophilin 2-gene mutation.Relevance of truncating titin mutations in dilated cardiomyopathy.Dilated Cardiomyopathy: Genetic Determinants and Mechanisms.
P2860
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P2860
Role of Titin Missense Variants in Dilated Cardiomyopathy.
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
@zh
2015年论文
@zh-cn
name
Role of Titin Missense Variants in Dilated Cardiomyopathy.
@en
type
label
Role of Titin Missense Variants in Dilated Cardiomyopathy.
@en
prefLabel
Role of Titin Missense Variants in Dilated Cardiomyopathy.
@en
P2093
P2860
P50
P356
P1476
Role of Titin Missense Variants in Dilated Cardiomyopathy.
@en
P2093
Andrea Di Lenarda
Anita Spezzacatene
Dobromir Slavov
Familial Cardiomyopathy Registry
Francesca Brun
Henk L Granzier
Katherine Gowan
Kenneth L Jones
Luisa Mestroni
Marco Merlo
P2860
P356
10.1161/JAHA.115.002645
P577
2015-11-13T00:00:00Z