Genotype-phenotype correlations in laminopathies: How does fate translate?

Biochemical Society Transactions

Volumn 38, Issue 1, 2010, Pages 257-262

  Scharner, Juergen ^a   Gnocchi, Viola F ^a   Ellis, Juliet A ^a   Zammit, Peter S ^a  

^a KING'S COLLEGE LONDON   (United Kingdom)

Author keywords

Autosomal Emery Dreifuss muscular dystrophy (A EDMD); Dilated cardiomyopathy(DCM); Familial partial lipodystrophy 2 (FPLD2); Hutchinson Gilford progeria syndrome (HGPS); Lamin; Laminopathy; Limb girdle muscular dystrophy 1B (LGMD1B); LMNA

Indexed keywords

LAMIN A; LAMIN C;

CELL DIVISION; DISEASE MODEL; EMERY DREIFUSS MUSCULAR DYSTROPHY; FAMILIAL PARTIAL LIPODYSTROPHY; GENE CLUSTER; GENE MUTATION; GENETIC ASSOCIATION; GENETIC DISORDER; GENOTYPE PHENOTYPE CORRELATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; LAMINOPATHY; MITOSIS; NONHUMAN; PHENOTYPIC VARIATION; PRIORITY JOURNAL; PROGERIA; PROTEIN STRUCTURE; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM; WERNER SYNDROME;

ANIMALS; DISEASE MODELS, ANIMAL; GENETIC DISEASES, INBORN; GENOTYPE; HUMANS; LAMIN TYPE A; MUTATION; NUCLEAR ENVELOPE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN CONFORMATION; SYNDROME;

EID: 76449114620     PISSN: 03005127     EISSN: 14708752     Source Type: Journal    
DOI: 10.1042/BST0380257     Document Type: Review

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