Disrupted posttranscriptional regulation of the cystic fibrosis transmembrane conductance regulator (CFTR) by a 5'UTR mutation is associated with a cftr-related disease

Human Mutation

Volumn 32, Issue 10, 2011, Pages

  Lukowski, Samuel W ^a   Bombieri, Cristina ^b   Trezise, Ann E O ^a  

^a UNIVERSITY OF QUEENSLAND   (Australia)

^b UNIVERSITY OF VERONA   (Italy)

Author keywords

5' untranslated region; CFTR; Cystic fibrosis; Upstream open reading frame, CFTR related disease, disseminated bronchiectasis

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR;

5' UNTRANSLATED REGION; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BRONCHIECTASIS; CASE REPORT; CYSTIC FIBROSIS; DISSEMINATED BRONCHIECTASIS; GENE EXPRESSION; GENE LOCUS; GENE MUTATION; HUMAN; MULTIFACTORIAL INHERITANCE; NUCLEOTIDE SEQUENCE; OPEN READING FRAME; PRIORITY JOURNAL; RNA STABILITY; TRANSCRIPTION REGULATION; ADOLESCENT; CELL LINE; CELL STRAIN HEK293; CELL STRAIN HT29; GENE ORDER; GENETIC PREDISPOSITION; GENETICS; MOLECULAR GENETICS; MUTATION; PROTEIN SYNTHESIS; RNA TRANSLATION; SEQUENCE ALIGNMENT; SINGLE NUCLEOTIDE POLYMORPHISM; START CODON;

5' UNTRANSLATED REGIONS; ADOLESCENT; BASE SEQUENCE; BRONCHIECTASIS; CELL LINE; CODON, INITIATOR; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; GENE ORDER; GENETIC PREDISPOSITION TO DISEASE; HEK293 CELLS; HT29 CELLS; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; PEPTIDE CHAIN INITIATION, TRANSLATIONAL; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN BIOSYNTHESIS; SEQUENCE ALIGNMENT;

EID: 80053036615     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21545     Document Type: Article

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