RSK2 enzymatic assay as a second level diagnostic tool in Coffin-Lowry syndrome

Clinica Chimica Acta

Volumn 384, Issue 1-2, 2007, Pages 35-40

  Micheli, Vanna ^a   Sestini, Sylvia ^a   Parri, Veronica ^a   Fichera, Marco ^b   Romano, Corrado ^b   Ariani, Francesca ^a   Longo, Ilaria ^a   Mari, Francesca ^a   Bruttini, Mirella ^a   Renieri, Alessandra ^a   Meloni, Ilaria ^a  

^a UNIVERSITY OF SIENA   (Italy)

^b OASI RESEARCH INSTITUTE IRCCS   (Italy)

Author keywords

Coffin Lowry syndrome (CLS); diagnostic tool; enzymatic assay; RSK2 protein

Indexed keywords

CYCLIC AMP RESPONSIVE ELEMENT BINDING PROTEIN; S6 KINASE;

ADULT; ANALYTIC METHOD; ARTICLE; CASE REPORT; COFFIN LOWRY SYNDROME; COGNITIVE DEFECT; COMPARATIVE STUDY; ENZYME ACTIVITY; FEMALE; GENE; GENE MUTATION; HUMAN; LYMPHOBLAST; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN PHOSPHORYLATION; RIBOSOMAL PROTEIN S6 KINASE GENE; X CHROMOSOME;

ADULT; BIOLOGICAL ASSAY; COFFIN-LOWRY SYNDROME; CYCLIC AMP RESPONSE ELEMENT-BINDING PROTEIN; FEMALE; HUMANS; LYMPHOCYTES; MALE; PHOSPHORYLATION; RIBOSOMAL PROTEIN S6 KINASES, 90-KDA;

EID: 34547850298     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cca.2007.05.016     Document Type: Article

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