A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation

Date

1999

Authors

Merienne, K.
Jacquot, S.
Pannetier, S.
Zeniou, M.
Bankier, A.
Gecz, J.
Mandel, J.L.
Mulley, J.
Sassone-Corsi, P.
Hanauer, A.

Editors

Advisors

Journal Title

Journal ISSN

Volume Title

Type:

Journal article

Citation

Nature Genetics, 1999; 22(1):13-14

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

Conference Name

DOI

10.1038/8719

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.

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Dissertation Note

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Published Version

https://doi.org/10.1038/8719

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Persistent link to this record

http://hdl.handle.net/2440/7732