C-Terminal Deletions in the ALAS2 Gene Lead to Gain of Function and Cause X-linked Dominant Protoporphyria without Anemia or Iron Overload
| Autor: | Whatley, Sharon D., Ducamp, Sarah, Gouya, Laurent, Grandchamp, Bernard, Beaumont, Carole, Badminton, Michael N., Elder, George H., Holme, S. Alexander, Anstey, Alexander V., Parker, Michelle, Corrigall, Anne V., Meissner, Peter N., Hift, Richard J., Marsden, Joanne T., Ma, Yun, Mieli-Vergani, Giorgina, Deybach, Jean-Charles, Puy, Hervé |
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| Zdroj: | In The American Journal of Human Genetics 2008 83(3):408-414 |
| Databáze: | ScienceDirect |
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