CFTR mutation combinations producing frequent complex alleles with different clinical and functional outcomes

Human Mutation

Volumn 33, Issue 11, 2012, Pages 1557-1565

  El Seedy, Ayman ^a   Girodon, Emmanuelle ^b   Norez, Caroline ^a   Pajaud, Julie ^a   Pasquet, Marie Claude ^a,c   de Becdelièvre, Alix ^b   Bienvenu, Thierry ^d   des Georges, Marie ^e   Cabet, Faïza ^f   Lalau, Guy ^g   Bieth, Eric ^h   Blayau, Martine ⁱ   Becq, Frédéric ^a   Kitzis, Alain ^a,c   Fanen, Pascale ^b   Ladeveze, Véronique ^a  

^a UNIVERSITÉ DE POITIERS   (France)

^b HENRI MONDOR HOSPITAL   (France)

^c POITIERS UNIVERSITY HOSPITAL   (France)

^d Institut Cochin   (France)

^e MONTPELLIER UNIVERSITY HOSPITAL   (France)

^f HOSPICES CIVILS DE LYON   (France)

^g LILLE UNIVERSITY HOSPITAL   (France)

^h CHU PURPAN   (France)

ⁱ PONTCHAILLOU UNIVERSITY HOSPITAL   (France)

Author keywords

CFTR; Complex allele; Cystic fibrosis; Function; Structure

Indexed keywords

ALANINE; ARGININE; ASPARTIC ACID; CYSTEINE; GLYCINE; TRANSMEMBRANE CONDUCTANCE REGULATOR; TYROSINE;

ADOLESCENT; ADULT; AGED; ALLELE; ARTICLE; CFTR GENE; CHILD; CLINICAL FEATURE; CONTROLLED STUDY; CYSTIC FIBROSIS; FETUS; GENE; GENE FUNCTION; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INFANT; MAJOR CLINICAL STUDY; NEWBORN; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN PROCESSING; STRUCTURE ACTIVITY RELATION;

ALLELES; AMINO ACID SUBSTITUTION; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; FRANCE; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; HELA CELLS; HETEROZYGOTE; HUMANS; MUTANT PROTEINS; MUTATION; MUTATION, MISSENSE; PROTEIN STRUCTURE, TERTIARY; RECOMBINANT PROTEINS;

POUTERIA SANDWICENSIS;

EID: 84867466489     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22129     Document Type: Article

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