The role of common single-nucleotide polymorphisms on exon 9 and exon 12 skipping in nonmutated CFTR alleles

Human Mutation

Volumn 24, Issue 2, 2004, Pages 120-129

  Steiner, Bernhard ^a   Truninger, Kaspar ^b   Sanz, Javier ^a   Schaller, André ^a   Gallati, Sabina ^a  

^a UNIVERSITY OF BERN   (Switzerland)

^b CANTONAL HOSPITAL AARAU   (Switzerland)

Author keywords

Alternative splicing; CF; CFTR; RNA splice sites; SNP

Indexed keywords

MESSENGER RNA; TRANSMEMBRANE CONDUCTANCE REGULATOR;

ALLELE; ARTICLE; CHRONIC PANCREATITIS; CLINICAL ARTICLE; CYSTIC FIBROSIS; EXON; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENOME; HUMAN; HUMAN CELL; IDIOPATHIC DISEASE; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN MOTIF; RESPIRATORY EPITHELIUM; RNA SPLICING; SINGLE NUCLEOTIDE POLYMORPHISM;

ADOLESCENT; ALLELES; ALTERNATIVE SPLICING; BASE COMPOSITION; BINDING SITES; CHILD, PRESCHOOL; CODON; COMPUTATIONAL BIOLOGY; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; DNA MUTATIONAL ANALYSIS; ENHANCER ELEMENTS (GENETICS); EXONS; HUMANS; MALE; MUTATION; NUCLEAR PROTEINS; POLYMORPHISM, SINGLE NUCLEOTIDE; RESPIRATORY MUCOSA; RNA SPLICE SITES; RNA, MESSENGER; TRANSCRIPTION, GENETIC;

EID: 3442898752     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20064     Document Type: Article

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