Article
The laminopathies: the functional architecture of the nucleus and its contribution to disease.
Annual review of genomics and human genetics - 1 Jan 2006
Burke Brian, Stewart Colin L
Abstract excerpt
Most inherited diseases are associated with mutations in a specific gene. Often, mutations in two or more different genes result in diseases with a similar phenotype. Rarely do different mutations in the same gene result in a multitude of seemingly different and unrelated diseases. Mutations in the Lamin A gene (LMNA), which encodes largely ubiquitously expressed nuclear proteins (A-type lamins), are associated...
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