Non-classic cystic fibrosis associated with D1152H CFTR mutation.

Burgel, P-R; Fajac, I; Hubert, D; Grenet, D; Stremler, N; Roussey, M; Siret, D; Languepin, J; Mely, L; Fanton, A; Labbé, A; Domblides, P; Vic, P; Dagorne, M; Reynaud-Gaubert, M; Counil, F; Varaigne, F; Bienvenu, T; Bellis, G; Dusser, D

Burgel, P-R; Fajac, I; Hubert, D; Grenet, D; Stremler, N; Roussey, M; Siret, D; Languepin, J; Mely, L; Fanton, A; Labbé, A; Domblides, P; Vic, P; Dagorne, M; Reynaud-Gaubert, M; Counil, F; Varaigne, F; Bienvenu, T; Bellis, G; Dusser, D.

Affiliation

Burgel PR; Hôpital Cochin, APHP, Université Paris Descartes, Paris, France. pierre-regis.burgel@cch.aphp.fr

Clin Genet ; 77(4): 355-64, 2010 Apr.

Article in En | MEDLINE | ID: mdl-19843100

Subject(s)

Cystic Fibrosis Transmembrane Conductance Regulator/genetics; Cystic Fibrosis/genetics; Genetic Predisposition to Disease; Mutation/genetics; Adolescent; Adult; Aged; Amino Acid Substitution/genetics; Child; Child, Preschool; Chlorides/analysis; Cohort Studies; Consensus; Cystic Fibrosis/classification; Cystic Fibrosis/diagnosis; Cystic Fibrosis/physiopathology; Female; Forced Expiratory Volume/genetics; Homozygote; Humans; Male; Membrane Potentials/physiology; Middle Aged; Nasal Mucosa/physiopathology; Sweat/chemistry; Young Adult

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Full text: 1 Database: MEDLINE Main subject: Cystic Fibrosis Transmembrane Conductance Regulator / Genetic Predisposition to Disease / Cystic Fibrosis / Mutation Type of study: Diagnostic_studies / Etiology_studies / Guideline / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Male / Middle aged Language: En Year: 2010 Type: Article

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