| 摘要 |
The invention provides a mammalian cDNA, which cinecodes amammalian nebulin-related protein. It also provides for the use of the cDNA, fragments, complements, and variants thereof and of the encoded protein, portions thereof and antibodies thereto for diagnosis and treatment of heart and muscle disorders, particularly nemaline myopathy, and as a marker of cardiac ontogeny and development. The invention additionaly provides expression vectors and host cells for the production of the protein and a transgenic model system. |
