| Autor: |
Keen, T. Jeffrey, Hims, Matthew M., McKie, Arthur B., Moore, Anthony T., Doran, Rob M., Mackey, David A., Mansfield, David C., Mueller, Robert F., Bhattacharya, Shomi S., Bird, Alan C., Markham, Alexander F., Inglehearn, Chris F. |
| Předmět: |
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| Zdroj: |
European Journal of Human Genetics; Apr2002, Vol. 10 Issue 4, p245, 5p |
| Abstrakt: |
The RP9 form of autosomal dominant retinitis pigmentosa (adRP) maps to a locus on human chromosome 7p14. We now report two different disease associated mutations in a previously unidentified human gene, the mouse orthologue of which has been characterised by its interaction with the Pim-1 oncogene. In the original linked family we identified the missense mutation H137L. A second missense mutation, D170G, was found in a single RP patient. The putative RP9 gene appears to be expressed in a wide range of tissues, but its function is unknown and a pathogenic mechanism remains to be determined. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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