Article
What can the CF registry tell us about rare CFTR-mutations? A Belgian study.
Orphanet journal of rare diseases - 22 Aug 2017
De Wachter E, Thomas M, Wanyama S S, Seneca S, Malfroot A
Abstract excerpt
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 identify CF with at least 1 RM (CF+RM). Clinical data and sweat chloride of CF+RM were compared to CF-controls,...
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