Mapping disease-related missense mutations in the immunoglobulin-like fold domain of lamin A/C reveals novel genotype-phenotype associations for laminopathies

Proteins: Structure, Function and Bioinformatics

Volumn 82, Issue 6, 2014, Pages 904-915

  Scharner, Juergen ^a   Lu, Hui Chun ^a   Fraternali, Franca ^a   Ellis, Juliet A ^a   Zammit, Peter S ^a  

^a KING'S COLLEGE LONDON   (United Kingdom)

Author keywords

Cardiomyopathy; Emery Dreifuss muscular dystrophy; Fold X; Laminopathy; Lipodystrophy; Polyphen 2; Premature aging

Indexed keywords

IMMUNOGLOBULIN; LAMIN A; LAMIN C; LMNA PROTEIN, HUMAN;

AMINO ACID SUBSTITUTION; ARTICLE; CRYSTAL STRUCTURE; GENE MAPPING; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; LAMINOPATHY; LIPODYSTROPHY; MISSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PREMATURE AGING; PRIORITY JOURNAL; PROTEIN DNA INTERACTION; PROTEIN RNA BINDING; SINGLE NUCLEOTIDE POLYMORPHISM; SKELETAL MUSCLE; CHEMICAL STRUCTURE; CHEMISTRY; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; GENETICS; PEPTIDE MAPPING; PROTEIN TERTIARY STRUCTURE;

AGING, PREMATURE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; LAMIN TYPE A; LIPODYSTROPHY; MODELS, MOLECULAR; MUTATION, MISSENSE; PEPTIDE MAPPING; PROTEIN STRUCTURE, TERTIARY;

EID: 84900545495     PISSN: 08873585     EISSN: 10970134     Source Type: Journal    
DOI: 10.1002/prot.24465     Document Type: Article

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