What can the CF registry tell us about rare CFTR-mutations? A Belgian study.

De Wachter, E; Thomas, M; Wanyama, S S; Seneca, S; Malfroot, A

De Wachter, E; Thomas, M; Wanyama, S S; Seneca, S; Malfroot, A.

Affiliation

De Wachter E; CF Clinic, Universitair Ziekenhuis Brussel, Vrije Universiteit Brussel, Laarbeeklaan 101, 1090, Brussels, Belgium. elke.dewachter@uzbrussel.be.
Thomas M; Belgian CF Registry, Scientific Institute of Public Health (WIV-ISP), Brussels, Belgium.
Wanyama SS; Belgian CF Registry, Scientific Institute of Public Health (WIV-ISP), Brussels, Belgium.
Seneca S; Department for Reproduction and Genetics, Centre of Medical Genetics, Universitair Ziekenhuis Brussel, Vrije Universiteit Brussel, Brussels, Belgium.
Malfroot A; CF Clinic, Universitair Ziekenhuis Brussel, Vrije Universiteit Brussel, Laarbeeklaan 101, 1090, Brussels, Belgium.

Orphanet J Rare Dis ; 12(1): 142, 2017 08 22.

Article in En | MEDLINE | ID: mdl-28830496

Subject(s)

Cystic Fibrosis Transmembrane Conductance Regulator/genetics; Mutation/genetics; Anti-Bacterial Agents/therapeutic use; Belgium; Female; Genotype; Humans; Male; Pancreas/pathology; Phenotype; Pseudomonas aeruginosa/pathogenicity

Key words

CF-registry study; Cystic fibrosis; Disease liability; Genotype-phenotype correlation; Rare CFTR-mutations

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cystic Fibrosis Transmembrane Conductance Regulator / Mutation Limits: Female / Humans / Male Country/Region as subject: Europa Language: En Journal: Orphanet J Rare Dis Journal subject: MEDICINA Year: 2017 Type: Article Affiliation country: Belgium

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