<p>(<b>A</b>) Pedigree of the studied family. The pedigree shows the affection statuses, individual identifiers, and genotypes at <i>LMNA</i> c.G695T. The samples (marked by arrows) I-3, II-2, II-3, II-4 and III-1 were exome sequenced. The I-1, I-3 and II-1 samples were from healthy individuals, and the phenotype of sample III-1 was uncertain. (<b>B</b>) Sequencing result showing the heterozygous <i>LMNA</i> c.G695T (G232V) mutation. WT, wild type allele; MT, mutant allele. (<b>C</b>) Schematic of Lamin A protein. *G232V mutation in the 1B−2 linker region.</p
Item does not contain fulltextBACKGROUND: Interpretation of missense variants can be especially diff...
Mutations in lamin A gene (LMNA) are associated with a number of genetic diseases that are collectiv...
Dilated cardiomyopathy (DCM) refers to a spectrum of heterogeneous myocardial disorders characterize...
Background: Inherited cardiac conduction diseases (CCD) are rare but are caused by mutations in a my...
The familial form of dilated cardiomyopathy (DCM) occurs in about 20%-50% of DCM cases. It is a hete...
Background Among the most frequently encountered mutations in dilated cardiomyopathy (DCM) are those...
Lamins A and C are type V intermediate filament proteins, which are components of the nuclear envel...
Background Among the most frequently encountered mutations in dilated cardiomyopathy (DCM) are those...
Background/Aims: Truncating LMNA gene mutations occur in many inherited cardiomyopathy cases, but th...
aminopathies represent a heterogeneous group of genetic disorders characterised by mutations in the ...
Background—Mutations in the LMNA gene, encoding lamins A/C, represent a significant cause of dilated...
Mutations in the lamin A/C gene (LMNA) were associated with dilated cardiomyopathy (DCM) and, recent...
Mutations in the lamin A/C gene (LMNA) were associated with dilated cardiomyopathy (DCM) and, recent...
Lamin A/C are intermediate filament proteins that construct the nuclear lamina of a cell encoded by ...
Background: Cardiac conduction disease is a clinically and genetically heterogeneous disorder charac...
Item does not contain fulltextBACKGROUND: Interpretation of missense variants can be especially diff...
Mutations in lamin A gene (LMNA) are associated with a number of genetic diseases that are collectiv...
Dilated cardiomyopathy (DCM) refers to a spectrum of heterogeneous myocardial disorders characterize...
Background: Inherited cardiac conduction diseases (CCD) are rare but are caused by mutations in a my...
The familial form of dilated cardiomyopathy (DCM) occurs in about 20%-50% of DCM cases. It is a hete...
Background Among the most frequently encountered mutations in dilated cardiomyopathy (DCM) are those...
Lamins A and C are type V intermediate filament proteins, which are components of the nuclear envel...
Background Among the most frequently encountered mutations in dilated cardiomyopathy (DCM) are those...
Background/Aims: Truncating LMNA gene mutations occur in many inherited cardiomyopathy cases, but th...
aminopathies represent a heterogeneous group of genetic disorders characterised by mutations in the ...
Background—Mutations in the LMNA gene, encoding lamins A/C, represent a significant cause of dilated...
Mutations in the lamin A/C gene (LMNA) were associated with dilated cardiomyopathy (DCM) and, recent...
Mutations in the lamin A/C gene (LMNA) were associated with dilated cardiomyopathy (DCM) and, recent...
Lamin A/C are intermediate filament proteins that construct the nuclear lamina of a cell encoded by ...
Background: Cardiac conduction disease is a clinically and genetically heterogeneous disorder charac...
Item does not contain fulltextBACKGROUND: Interpretation of missense variants can be especially diff...
Mutations in lamin A gene (LMNA) are associated with a number of genetic diseases that are collectiv...
Dilated cardiomyopathy (DCM) refers to a spectrum of heterogeneous myocardial disorders characterize...