Mutations and polymorphisms of the skeletal muscle a-actin gene (ACTA1)

Mutations and polymorphisms of the skeletal muscle a-actin gene (ACTA1)

The ACTA1 gene encodes skeletal muscle a-actin, which is the predominant actin isoform in the sarcomeric thin filaments of adult skeletal muscle, and essential, along with myosin, for muscle contraction. ACTA1 disease-causing mutations were first described in 1999, when a total of 15 mutations were...

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Bibliographic Details
Main Authors: Laing, N., Dye, Danielle, Wallgren-Pettersson, C., Richard, G., Monnier, N., Lillis, S., Winder, T., Lochmüller, H., Graziano, C., Mitrani-Rosenbaum, S., Twomey, D., Sparrow, J., Beggs, A., Nowak, K.
Format: Journal Article
Published: John Wiley & Sons, Inc. 2009
Online Access:http://hdl.handle.net/20.500.11937/47755

Internet

http://hdl.handle.net/20.500.11937/47755

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