Mutations in CNNM4 Cause Jalili Syndrome, Consisting of Autosomal-Recessive Cone-Rod Dystrophy and Amelogenesis Imperfecta
| Autor: | Parry, David A., Mighell, Alan J., El-Sayed, Walid, Shore, Roger C., Jalili, Ismail K., Dollfus, Hélène, Bloch-Zupan, Agnes, Carlos, Roman, Carr, Ian M., Downey, Louise M., Blain, Katharine M., Mansfield, David C., Shahrabi, Mehdi, Heidari, Mansour, Aref, Parissa, Abbasi, Mohsen, Michaelides, Michel, Moore, Anthony T., Kirkham, Jennifer, Inglehearn, Chris F. |
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| Zdroj: | In The American Journal of Human Genetics 13 February 2009 84(2):266-273 |
| Databáze: | ScienceDirect |
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