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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...
Uloženo v:
| Vydáno v: | Orphanet J Rare Dis |
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| Hlavní autoři: | , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
BioMed Central
2017
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5567473/ https://ncbi.nlm.nih.gov/pubmed/28830496 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-017-0694-1 |
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