Adelaide Research & Scholarship
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https://hdl.handle.net/2440/7732
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| Type: | Journal article |
| Title: | A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation |
| Author: | Merienne, K. Jacquot, S. Pannetier, S. Zeniou, M. Bankier, A. Gecz, J. Mandel, J.L. Mulley, J. Sassone-Corsi, P. Hanauer, A. |
| Citation: | Nature Genetics, 1999; 22(1):13-14 |
| Publisher: | NATURE AMERICA INC |
| Issue Date: | 1999 |
| ISSN: | 1061-4036 1546-1718 |
| Statement of Responsibility: | Karine Merienne; Sylvie Jacquot; Solange Pannetier; Maria Zeniou; Agnes Bankier; Jozef Gecz; Jean-louis Mandel; John Mulley; Paolo Sassone-corsi; André Hanauer |
| Abstract: | Studies the genetic aspects of X-linked mental retardation (XLMR). Subtypes of XLMR; Presence of RPS6KA3 missense mutation; Kinase activity of the R383 mutant. |
| Keywords: | FRAGILE X syndrome MUTATION (Biology) |
| DOI: | 10.1038/8719 |
| Appears in Collections: | Aurora harvest Paediatrics publications |
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