Delineation of the mechanisms of aberrant splicing caused by two unusual intronic mutations in the RSK2 gene involved in Coffin-Lowry syndrome

Nucleic Acids Research

Volumn 32, Issue 3, 2004, Pages 1214-1223

  Zeniou, Maria ^a,b   Gattoni, Renata ^a   Hanauer, André ^a   Stévenin, James ^a  

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

^b CENTRE DE NEUROCHIMIE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; GUANINE; MESSENGER RNA; PROTEIN KINASE; RAS PROTEIN; RNA; S6 KINASE; SMALL NUCLEAR RNA; TYROSINE; URACIL; RIBOSOMAL PROTEIN S6 KINASE 2;

AMINO ACID SUBSTITUTION; ARTICLE; BASE PAIRING; COFFIN LOWRY SYNDROME; CONTROLLED STUDY; DISEASE SEVERITY; EXON; GENE MUTATION; GENETIC CODE; HUMAN; HUMAN CELL; IN VITRO STUDY; IN VIVO STUDY; INTRON; PATHOGENESIS; POINT MUTATION; PRIORITY JOURNAL; RNA SPLICING; SIGNAL TRANSDUCTION; STOP CODON; TRANSACTIVATION; TRANSLATION REGULATION; CELL LINE; ENZYMOLOGY; GENETICS; HELA CELL; METABOLISM; NUCLEOTIDE SEQUENCE;

BASE SEQUENCE; CELL LINE; COFFIN-LOWRY SYNDROME; HELA CELLS; HUMANS; INTRONS; POINT MUTATION; RIBOSOMAL PROTEIN S6 KINASES, 90-KDA; RNA SPLICE SITES; RNA SPLICING;

EID: 2342635738     PISSN: 03051048     EISSN: None     Source Type: Journal    
DOI: 10.1093/nar/gkh272     Document Type: Article

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