Functional analysis of a promoter variant identified in the CFTR gene in cis of a frameshift mutation

European Journal of Human Genetics

Volumn 20, Issue 2, 2012, Pages 180-184

  Viart, Victoria ^a,b   Georges, Marie Des ^a,c   Claustres, Mireille ^a,b,c   Taulan, Magali ^a,b  

^a UNIVERSITÉ DE MONTPELLIER   (France)

^b UNIV MONTPELLIER   (France)

^c HÔPITAL ARNAUD DE VILLENEUVE   (France)

Author keywords

CFTR; frameshift mutation; functional analysis; promoter sequence variation

Indexed keywords

MESSENGER RNA; TRANSMEMBRANE CONDUCTANCE REGULATOR;

ARTICLE; CASE REPORT; CIS ISOMER; CONTROLLED STUDY; CYSTIC FIBROSIS; FRAMESHIFT MUTATION; GENE DELETION; GENE FUNCTION; GENE SEQUENCE; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; HUMAN; NUCLEOTIDE SEQUENCE; PATHOGENICITY; PREMATURE TERMINATION CODON; PRIORITY JOURNAL; PROMOTER REGION; STOP CODON; TRANS ISOMER;

ANIMALS; CERCOPITHECUS AETHIOPS; COS CELLS; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; FRAMESHIFT MUTATION; GENETIC ASSOCIATION STUDIES; HUMANS; PROMOTER REGIONS, GENETIC; TRANSFECTION;

EID: 84855812427     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2011.161     Document Type: Article

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