Genetics of cystic fibrosis: CFTR mutation classifications toward genotype-based CF therapies

International Journal of Biochemistry and Cell Biology

Volumn 52, Issue , 2014, Pages 94-102

  Fanen, Pascale ^a,b,c   Wohlhuter Haddad, Adeline ^b,d   Hinzpeter, Alexandre ^a,b  

^a UNIVERSITÉ PARIS EST CRÉTEIL   (France)

^b INSERM U955   (France)

^c HENRI MONDOR HOSPITAL   (France)

^d MCGILL UNIVERSITY   (Canada)

Author keywords

CFTR; CFTR RD; Mutation; Therapy; Variants of unknown significance

Indexed keywords

CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR;

AMINO ACID SUBSTITUTION; ARTICLE; CYSTIC FIBROSIS; DISEASE CLASSIFICATION; FRAMESHIFT MUTATION; GENE MUTATION; GENETIC SCREENING; GENOTYPE; HIGH THROUGHPUT SCREENING; HUMAN; MISSENSE MUTATION; NEWBORN SCREENING; NONSENSE MEDIATED MRNA DECAY; NONSENSE MUTATION; PROTEIN PROCESSING; SPLICING DEFECT; STOP CODON; GENETICS; METABOLISM; MUTATION;

CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; HUMANS; MUTATION;

EID: 84901588779     PISSN: 13572725     EISSN: 18785875     Source Type: Journal    
DOI: 10.1016/j.biocel.2014.02.023     Document Type: Article

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