Article
Genotype-phenotype correlations in laminopathies: how does fate translate?
Biochemical Society transactions - 1 Feb 2010
Scharner Juergen, Gnocchi Viola F, Ellis Juliet A, Zammit Peter S
Abstract excerpt
A-type laminopathies are a group of diseases resulting from mutations in the intermediate filament proteins lamin A and C (both encoded by the LMNA gene), but for which the pathogenic mechanisms are little understood. In some laminopathies, there is a good correlation between the presence of a sp...
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