期刊论文 Laminopathies: One Gene, Two Proteins, Five Diseases..复制

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C Vigouroux, G Bonne
Madame Curie Bioscience Database …, 2013
ncbi.nlm.nih.gov
Lamins are the major components of the nuclear lamina, a network located between inner nuclear membrane and chromatin, which plays a fundamental role in the organization of the nuclear architecture in all human cells. Lamins A and C, which are alternatively spliced products of the A-type lamin gene (LMNA), are expressed in differentiated cells, whereas B-type lamins, arising from two different genes, are ubiquitous.Recent familial genetic studies have shown, contrary to all expectations, that naturally occurring mutations in LMNA are …