(Q28207505)

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X-linked Coffin-Lowry syndrome (CLS, MIM 303600, RPS6KA3 gene, protein product known under various names: pp90(rsk2), RSK2, ISPK, MAPKAP1)

scientific article (publication date: 2002)

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X-linked Coffin-Lowry syndrome (CLS, MIM 303600, RPS6KA3 gene, protein product known under various names: pp90(rsk2), RSK2, ISPK, MAPKAP1) (English)

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main subject

Coffin-Lowry syndrome

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Sylvie Jacquot

1

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Maria Zeniou

series ordinal

2

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Renaud Touraine

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3

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André Hanauer

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4

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language of work or name

English

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publication date

January 2002

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published in

European Journal of Human Genetics

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volume

10

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issue

1

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page(s)

2-5

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cites work

Unreported RSK2 missense mutation in two male sibs with an unusually mild form of Coffin-Lowry syndrome

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200738

retrieved

21 January 2018

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

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Crossref

reference URL

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200738

retrieved

21 January 2018

Rapid immunoblot and kinase assay tests for a syndromal form of X linked mental retardation: Coffin-Lowry syndrome

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200738

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21 January 2018

Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200738

retrieved

21 January 2018

Mutation analysis of the RSK2 gene in Coffin-Lowry patients: extensive allelic heterogeneity and a high rate of de novo mutations

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200738

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21 January 2018

Role and regulation of 90 kDa ribosomal S6 kinase (RSK) in signal transduction.

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200738

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21 January 2018

Altered extracellular signal-regulated kinase signaling and glycogen metabolism in skeletal muscle from p90 ribosomal S6 kinase 2 knockout mice

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200738

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21 January 2018

Germline mosaicism in Coffin-Lowry syndrome

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21 January 2018

The Coffin-Lowry syndrome

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200738

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7 January 2021

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Cloning of a human insulin-stimulated protein kinase (ISPK-1) gene and analysis of coding regions and mRNA levels of the ISPK-1 and the protein phosphatase-1 genes in muscle from NIDDM patients

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200738

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7 January 2021

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Identifiers

DOI

10.1038/SJ.EJHG.5200738

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Dimensions Publication ID

1049321103

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PubMed publication ID

11896450

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ResearchGate publication ID

11467990

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(Q28207505)

X-linked Coffin-Lowry syndrome (CLS, MIM 303600, RPS6KA3 gene, protein product known under various names: pp90(rsk2), RSK2, ISPK, MAPKAP1)

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