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An intact cysteine-rich domain is required for dystrophin function.
The carboxyl terminus of dystrophin is encoded by a highly conserved, alternatively spliced region of the gene. The few rare mutations reported in this region are of interest in unraveling the function of the dystrophin molecule. An unusual case of infantile onset Duchenne muscular dystrophy (DMD) w...
Uloženo v:
| Vydáno v: | J Clin Invest |
|---|---|
| Hlavní autoři: | , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
American Society for Clinical Investigation
1992
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC443149/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1644931/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI115909 |
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