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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Главные авторы: Field, M, Tarpey, P, Boyle, J, Edkins, S, Goodship, J, Luo, Y, Moon, J, Teague, J, Stratton, MR, Futreal, PA, Wooster, R, Raymond, FL, Turner, G
Формат: Artigo
Язык:Inglês
Опубликовано: 2006
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Article
Online-ссылка: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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