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https://hdl.handle.net/2440/7732
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DC Field | Value | Language |
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dc.contributor.author | Merienne, K. | - |
dc.contributor.author | Jacquot, S. | - |
dc.contributor.author | Pannetier, S. | - |
dc.contributor.author | Zeniou, M. | - |
dc.contributor.author | Bankier, A. | - |
dc.contributor.author | Gecz, J. | - |
dc.contributor.author | Mandel, J.L. | - |
dc.contributor.author | Mulley, J. | - |
dc.contributor.author | Sassone-Corsi, P. | - |
dc.contributor.author | Hanauer, A. | - |
dc.date.issued | 1999 | - |
dc.identifier.citation | Nature Genetics, 1999; 22(1):13-14 | - |
dc.identifier.issn | 1061-4036 | - |
dc.identifier.issn | 1546-1718 | - |
dc.identifier.uri | http://hdl.handle.net/2440/7732 | - |
dc.description.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. | - |
dc.description.statementofresponsibility | Karine Merienne; Sylvie Jacquot; Solange Pannetier; Maria Zeniou; Agnes Bankier; Jozef Gecz; Jean-louis Mandel; John Mulley; Paolo Sassone-corsi; André Hanauer | - |
dc.language.iso | en | - |
dc.publisher | NATURE AMERICA INC | - |
dc.source.uri | http://dx.doi.org/10.1038/8719 | - |
dc.subject | FRAGILE X syndrome | - |
dc.subject | MUTATION (Biology) | - |
dc.title | A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation | - |
dc.type | Journal article | - |
dc.identifier.doi | 10.1038/8719 | - |
pubs.publication-status | Published | - |
dc.identifier.orcid | Gecz, J. [0000-0002-7884-6861] | - |
Appears in Collections: | Aurora harvest Paediatrics publications |
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