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Endocrine-Related Cancer, ISSN 1351-0088, 03/2010, Volume 17, Issue 1, pp. R39 - R52
Journal Article
Journal of Internal Medicine, ISSN 0954-6820, 02/2015, Volume 277, Issue 2, pp. 155 - 166
Cystic fibrosis ( CF ) is the most common genetic life‐shortening condition in Caucasians. Despite being a multi‐organ disease, CF is classically diagnosed by... 
rare diseases | monogenic disorder | mutation‐specific therapies | personalized therapy | Rare diseases | Monogenic disorder | Personalized therapy | Mutation-specific therapies | CFTR MUTATIONS | GENE-MUTATIONS | PROTEIN | GENOTYPE-PHENOTYPE CORRELATIONS | F508DEL-CFTR | IDENTIFICATION | PLASMA-MEMBRANE | TRANSMEMBRANE CONDUCTANCE REGULATOR | MEDICINE, GENERAL & INTERNAL | OBSTRUCTIVE PULMONARY-DISEASE | LUNG-DISEASE | mutation-specific therapies | Severity of Illness Index | Cystic Fibrosis - blood | Frameshift Mutation | Sweat Glands - drug effects | Humans | Aminophenols - therapeutic use | Rare Diseases | Biomarkers - blood | Codon, Nonsense | Evidence-Based Medicine | Oxadiazoles - therapeutic use | Purinergic Antagonists - therapeutic use | Anti-Bacterial Agents - therapeutic use | Phenotype | Cystic Fibrosis - genetics | Quinolones - therapeutic use | Anti-Inflammatory Agents - therapeutic use | Cystic Fibrosis - diagnosis | Cystic Fibrosis Transmembrane Conductance Regulator - genetics | Genistein - therapeutic use | Cystic Fibrosis - mortality | Cystic Fibrosis - drug therapy | Aminoglycosides - therapeutic use | Precision Medicine | Cystic fibrosis | Care and treatment | Medical research | Lung diseases | Clinical trials | Mucus | Environmental factors | Patients | Defects | Proteins | Resistance | Antibiotics | Respiratory diseases | Fibrosis | Conductance | Sweat
Journal Article