Identification of novel mutations in the RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome

Clinical Genetics

Volumn 70, Issue 2, 2006, Pages 161-166

  Delaunoy, J P ^a   Dubos, A ^b   Marques Pereira, P ^b   Hanauer, André ^b  

^a UNIVERSITÉ DE STRASBOURG   (France)

^b INSTITUT DE GÉNÉTIQUE ET DE BIOLOGIE MOLÉCULAIRE ET CELLULAIRE   (France)

Author keywords

Coffin lowry syndrome; Mutations; RSK2; X linked mental retardation

Indexed keywords

DNA; PROTEIN SERINE THREONINE KINASE; RIBOSOMAL S6 KINASE 2; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; CHILD; COFFIN LOWRY SYNDROME; CONTROLLED STUDY; DNA DETERMINATION; DNA SEQUENCE; FEMALE; GENE DELETION; GENE INSERTION; GENE MUTATION; GENETIC COUNSELING; HUMAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MOSAICISM; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN PROCESSING; SEQUENCE ANALYSIS;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; COFFIN-LOWRY SYNDROME; FEMALE; HUMANS; MALE; MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RIBOSOMAL PROTEIN S6 KINASES, 90-KDA;

EID: 33745860451     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2006.00660.x     Document Type: Article

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