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Mutations in the RSK2(RPS6KA3) gene cause Coffin–Lowry syndrome and nonsyndromic X-linked mental retardation
We describe three families with X-linked mental retardation, two with a deletion of a single amino acid and one with a missense mutation in the proximal domain of the RSK2(RPS6KA3) (ribosomal protein S6 kinase, 90 kDa, polypeptide 3) protein similar to mutations found in Coffin–Lowry syndrome (CLS)....
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| Autors principals: | , , , , , , , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
2006
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2714973/ https://ncbi.nlm.nih.gov/pubmed/17100996 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1399-0004.2006.00723.x |
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