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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
Issue Date: 1999
ISSN: 1061-4036
Statement of
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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