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- W2162662013 abstract "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 with at least eight different diseases, collectively called the laminopathies. Studies examining how different tissue-specific diseases arise from unique LMNA mutations are providing unanticipated insights into the structural organization of the nucleus, and how disruption of this organization relates to novel mechanisms of disease." @default.
- W2162662013 created "2016-06-24" @default.
- W2162662013 creator A5054248259 @default.
- W2162662013 creator A5087964537 @default.
- W2162662013 date "2006-09-01" @default.
- W2162662013 modified "2023-09-27" @default.
- W2162662013 title "The Laminopathies: The Functional Architecture of the Nucleus and Its Contribution to Disease" @default.
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