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

BACKGROUND: CFTR2 provides clinical and functional information of the most common CFTR-mutations. Rare mutations (RMs) occur in only a few patients with limited reported clinical data. Their role in CF-disease liability is hardly documented. METHODS: Belgian CF-Registry 2013 data were analyzed to id...

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Detalles Bibliográficos
Autores principales: De Wachter, E., Thomas, M., Wanyama, S. S., Seneca, S., Malfroot, A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5567473/
https://www.ncbi.nlm.nih.gov/pubmed/28830496
http://dx.doi.org/10.1186/s13023-017-0694-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5567473/
https://www.ncbi.nlm.nih.gov/pubmed/28830496
http://dx.doi.org/10.1186/s13023-017-0694-1

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