Characterization of a disease-associated mutation affecting a putative splicing regulatory element in intron 6b of the cystic fibrosis transmembrane conductance regulator (CFTR) gene

Journal of Biological Chemistry

Volumn 284, Issue 44, 2009, Pages 30024-30031

  Faà, Valeria ^a   Incani, Federica ^b   Meloni, Alessandra ^a   Corda, Denise ^b   Masala, Maddalena ^b   Baffico, A Mario ^c   Seia, Manuela ^d   Cao, Antonio ^a   Rosatelli, M Cristina ^b  

^a CNR   (Italy)

^b UNIVERSITY OF CAGLIARI   (Italy)

^c GALLIERA HOSPITAL   (Italy)

^d Institute of Dermatological Sciences   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATORS; DNA ANALYSIS; NUCLEAR RIBONUCLEOPROTEIN; PRE-MRNA; RECESSIVE DISORDER; REGULATORY ELEMENTS; REGULATORY PROTEIN; SPLICE SITE; SPLICEOSOMES; SPLICING FACTORS; TRANS-MEMBRANE CONDUCTANCE;

ACTIVATION ANALYSIS;

NUCLEIC ACIDS;

MESSENGER RNA; PROTEIN SRP75; RIBONUCLEOPROTEIN; RIBONUCLEOPROTEIN A2; RIBONUCLEOPROTEIN B1; SELF SPLICING RIBOSOMAL RNA; SMALL INTERFERING RNA; TRANSMEMBRANE CONDUCTANCE REGULATOR; UNCLASSIFIED DRUG;

ARTICLE; CONTROLLED STUDY; CYSTIC FIBROSIS; DNA DETERMINATION; DOWN REGULATION; EXON; GENE INSERTION; GENE LOCATION; GENE MUTATION; GENE SEQUENCE; GENETIC IDENTIFICATION; HUMAN; HUMAN CELL; INTRON; ITALY; MAJOR CLINICAL STUDY; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN MOTIF; RNA SPLICING; UPREGULATION;

CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INTRONS; MUTATION; REGULATORY SEQUENCES, NUCLEIC ACID; RNA SPLICE SITES; RNA SPLICING; RNA-BINDING PROTEINS; SEQUENCE DELETION;

EID: 71049130202     PISSN: 00219258     EISSN: 1083351X     Source Type: Journal    
DOI: 10.1074/jbc.M109.032623     Document Type: Article

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