Morphological analysis of 13 LMNA variants identified in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy

Circulation: Cardiovascular Genetics

Volumn 3, Issue 1, 2010, Pages 6-14

  Cowan, Jason ^a   Li, Duanxiang ^a   Gonzalez Quintana, Jorge ^a   Morales, Ana ^a   Hershberger, Ray E ^a  

^a UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

Author keywords

Dilated cardiomyopathy; Genetics; Lamin A C

Indexed keywords

CELL PROTEIN; COIL 1B; GREEN FLUORESCENT PROTEIN; LAMIN A; LAMIN C; UNCLASSIFIED DRUG; HYBRID PROTEIN; NUCLEAR PROTEIN; PRELAMIN A; PROTEIN PRECURSOR;

ANIMAL CELL; ARTICLE; CARDIOMYOPATHY; CELL NUCLEUS; CELL STRAIN COS7; CELL STRAIN HEK293; COHORT ANALYSIS; CONFOCAL IMMUNOFLUORESCENCE MICROSCOPY; CONGESTIVE CARDIOMYOPATHY; CONTROLLED STUDY; CYTOPLASM; FAMILIAL DILATED CARDIOMYOPATHY; GENE; GENETIC ASSOCIATION; GENETIC VARIABILITY; HUMAN; HUMAN CELL; IMMUNOFLUORESCENCE MICROSCOPY; LMNA GENE; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONHUMAN; NUCLEAR SHAPE; PATHOGENESIS; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN AGGREGATION; PROTEIN LOCALIZATION; AMINO ACID SUBSTITUTION; ANIMAL; CELL STRAIN COS1; CERCOPITHECUS; FEMALE; GENETICS; MALE; METABOLISM; PATHOLOGY; SITE DIRECTED MUTAGENESIS; ULTRASTRUCTURE;

AMINO ACID SUBSTITUTION; ANIMALS; CARDIOMYOPATHY, DILATED; CELL NUCLEUS; CERCOPITHECUS AETHIOPS; COHORT STUDIES; COS CELLS; FEMALE; GREEN FLUORESCENT PROTEINS; HUMANS; LAMIN TYPE A; MALE; MUTAGENESIS, SITE-DIRECTED; NUCLEAR PROTEINS; PEDIGREE; PHENOTYPE; PROTEIN PRECURSORS; RECOMBINANT FUSION PROTEINS;

EID: 77952509742     PISSN: 1942325X     EISSN: 19423268     Source Type: Journal    
DOI: 10.1161/CIRCGENETICS.109.905422     Document Type: Article

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