Clinical and functional characterization of a novel mutation in lamin a/c gene in a multigenerational family with arrhythmogenic cardiac laminopathy
about
Arrhythmogenic Right Ventricular Dysplasia in Neuromuscular DisordersThe expression of Lamin A mutant R321X leads to endoplasmic reticulum stress with aberrant Ca2+ handling.Clinical disease presentation and ECG characteristics of LMNA mutation carriersTargeted next-generation sequencing detects novel gene-phenotype associations and expands the mutational spectrum in cardiomyopathies.Cell models of arrhythmogenic cardiomyopathy: advances and opportunities.Precision medicine approach to genetic cardiomyopathy.Atomic force microscopy and lamins: A review study towards future, combined investigations.Clinical Genetic Testing for the Cardiomyopathies and Arrhythmias: A Systematic Framework for Establishing Clinical Validity and Addressing Genotypic and Phenotypic Heterogeneity.A novel de novo mutation in Lamin A/C gene in Emery Dreifuss Muscular Dystrophy patient with atrial paralysis.Role of Lamin A/C Gene Mutations in the Signaling Defects Leading to CardiomyopathiesExploring the Crosstalk Between and Splicing Machinery Gene Mutations in Dilated Cardiomyopathy
P2860
Q28069859-D5C66C38-9DCF-4C00-A000-663FAD1FDC6AQ37370789-B498F00E-8095-4E14-A285-1AFD5B3A79A8Q37598892-2D8DA7D4-9584-4408-AFF8-038F49BBCBC4Q38657463-D0C496ED-A009-4F9B-84E2-404E8ACB586CQ38662414-6F0E0011-CDAC-4DF6-B5EC-AC8B0A858A6EQ38666336-BAA07DEE-EF09-4D8E-A85C-47B19A3C9BDFQ38793915-59E9849D-E5B9-4941-ABDA-99D5D318F773Q41936884-251510A1-8CE1-48DC-8B92-AB94A99DABF9Q46423141-21272D39-F102-444A-869B-22282CDA7737Q57492157-278041CA-BE57-46CD-BD94-ACCFDB8BB6EAQ57646299-6D8D61DB-24AE-4686-8D08-9C85724995FD
P2860
Clinical and functional characterization of a novel mutation in lamin a/c gene in a multigenerational family with arrhythmogenic cardiac laminopathy
description
2015 nî lūn-bûn
@nan
2015 թուականին հրատարակուած գիտական յօդուած
@hyw
2015 թվականին հրատարակված գիտական հոդված
@hy
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
name
Clinical and functional charac ...... ythmogenic cardiac laminopathy
@ast
Clinical and functional charac ...... ythmogenic cardiac laminopathy
@en
Clinical and functional charac ...... ythmogenic cardiac laminopathy
@nl
type
label
Clinical and functional charac ...... ythmogenic cardiac laminopathy
@ast
Clinical and functional charac ...... ythmogenic cardiac laminopathy
@en
Clinical and functional charac ...... ythmogenic cardiac laminopathy
@nl
prefLabel
Clinical and functional charac ...... ythmogenic cardiac laminopathy
@ast
Clinical and functional charac ...... ythmogenic cardiac laminopathy
@en
Clinical and functional charac ...... ythmogenic cardiac laminopathy
@nl
P2093
P2860
P50
P3181
P1433
P1476
Clinical and functional charac ...... ythmogenic cardiac laminopathy
@en
P2093
Alessandra Rampazzo
Rosanna Valecce
Sandro Sorrentino
P2860
P304
P3181
P356
10.1371/JOURNAL.PONE.0121723
P407
P50
P577
2015-01-01T00:00:00Z