Two Mild Cystic Fibrosis-associated Mutations Result in Severe Cystic Fibrosis When Combined in Cis and Reveal a Residue Important for Cystic Fibrosis Transmembrane Conductance Regulator Processing and Function

Journal of Biological Chemistry

Volumn 276, Issue 12, 2001, Pages 9045-9049

  Clain, Jérôme ^a,b   Fritsch, Janine ^c   Lehmann Che, Jacqueline ^a   Bali, Moëz ^b   Arous, Nicole ^a   Goossens, Michel ^a   Edelman, Aleksander ^b   Fanen, Pascale ^a  

^a HENRI MONDOR HOSPITAL   (France)

^b INSERM   (France)

^c HÔPITAL SAINT VINCENT DE PAUL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

BIOCHEMISTRY; BIOSYNTHESIS; CELLS; GENETIC ENGINEERING; GROWTH KINETICS; MUTAGENESIS; PROTEINS;

MOLECULAR MECHANISMS;

BIOLOGICAL MEMBRANES;

CHLORIDE CHANNEL; MUTANT PROTEIN; TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR PROTEIN, HUMAN;

ALLELE; ARTICLE; CHANNEL GATING; CHLORIDE CURRENT; CONTROLLED STUDY; CYSTIC FIBROSIS; DISEASE SEVERITY; ELECTRIC POTENTIAL; GENE MUTATION; GENOTYPE; HELA CELL; HUMAN; HUMAN CELL; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; PHENOTYPIC VARIATION; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN LOCALIZATION; PROTEIN PROCESSING; PROTEIN SYNTHESIS; STRUCTURE ACTIVITY RELATION; GENETICS; MUTATION; PATCH CLAMP; PHYSIOLOGY; SERODIAGNOSIS; SITE DIRECTED MUTAGENESIS;

CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; HELA CELLS; HUMANS; MUTAGENESIS, SITE-DIRECTED; MUTATION; PATCH-CLAMP TECHNIQUES; PRECIPITIN TESTS;

EID: 0035937749     PISSN: 00219258     EISSN: None     Source Type: Journal    
DOI: 10.1074/jbc.M008979200     Document Type: Article

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