Investigation of Pathogenic Genes in Chinese sporadic Hypertrophic Cardiomyopathy Patients by Whole Exome Sequencing
about
Deregulated Ca2+ cycling underlies the development of arrhythmia and heart disease due to mutant obscurinA rare variant in the FHL1 gene associated with X-linked recessive hypoparathyroidism.Obscure functions: the location-function relationship of obscurins.Ryanodine receptors are part of the myospryn complex in cardiac muscle.Obscurin variants and inherited cardiomyopathies.Novel obscurins mediate cardiomyocyte adhesion and size via the PI3K/AKT/mTOR signaling pathway.Identification of de novo germline mutations and causal genes for sporadic diseases using trio-based whole-exome/genome sequencing.Identification of key genes in non‑alcoholic fatty liver disease progression based on bioinformatics analysis.Mechanical dyssynchrony and diastolic dysfunction are common in LVH: a pilot correlation study using Doppler echocardiography and CZT gated-SPECT MPI.
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P2860
Investigation of Pathogenic Genes in Chinese sporadic Hypertrophic Cardiomyopathy Patients by Whole Exome Sequencing
description
2015 nî lūn-bûn
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2015年の論文
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2015年学术文章
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2015年学术文章
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2015年学术文章
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2015年学术文章
@zh-my
2015年学术文章
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name
Investigation of Pathogenic Ge ...... ents by Whole Exome Sequencing
@ast
Investigation of Pathogenic Ge ...... ents by Whole Exome Sequencing
@en
type
label
Investigation of Pathogenic Ge ...... ents by Whole Exome Sequencing
@ast
Investigation of Pathogenic Ge ...... ents by Whole Exome Sequencing
@en
prefLabel
Investigation of Pathogenic Ge ...... ents by Whole Exome Sequencing
@ast
Investigation of Pathogenic Ge ...... ents by Whole Exome Sequencing
@en
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P2860
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Investigation of Pathogenic Ge ...... ents by Whole Exome Sequencing
@en
P2093
Qiming Dai
Xiangdong Liu
Xianguo Ren
Xingjuan Shi
Zhongshan Li
Zhongsheng Sun
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P2888
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10.1038/SREP16609
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P50
P577
2015-11-17T00:00:00Z