N-terminal CFTR missense variants severely affect the behavior of the CFTR chloride channel

Human Mutation

Volumn 29, Issue 5, 2008, Pages 738-749

  Gene G G ^a   Llobet, A ^b   Larriba, S ^a   De Semir, D ^a,c   Martinez I ^a   Escalada, A ^b   Solsona, C ^b   Casals, T ^a   Aran, Josep M ^a  

^a HOSPITAL DURAN I REYNALS   (Spain)

^b UNIVERSITY OF BARCELONA   (Spain)

^c UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

CF; CFTR; Channel gating; Cystic fibrosis; Maturation

Indexed keywords

CHLORIDE CHANNEL; GLYCOSYLATED PROTEIN; TRANSMEMBRANE CONDUCTANCE REGULATOR;

ARTICLE; BIOGENESIS; GENE ACTIVITY; GENETIC VARIABILITY; GLYCOSYLATION; HUMAN; HUMAN CELL; IMMUNOBLOTTING; IMMUNOFLUORESCENCE; MISSENSE MUTATION; MUTAGENESIS; NUCLEOTIDE SEQUENCE; PATCH CLAMP; PHENOTYPE; PRIORITY JOURNAL; WHOLE CELL;

AMINO ACID SEQUENCE; ANIMALS; CELL LINE; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; FLUORESCENT ANTIBODY TECHNIQUE; GLYCOSYLATION; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PATCH-CLAMP TECHNIQUES; PROTEIN FOLDING; SEQUENCE HOMOLOGY, AMINO ACID; SUBCELLULAR FRACTIONS;

EID: 42949161994     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20721     Document Type: Article

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