We report on a 10-month-old boy with hypotonic dehydration and metabolic alkalosis. Sweat test was borderline and genetic analysis was negative for common mutations. Analysis of the whole coding regions of the CFTR gene revealed the rare mutation D579G in homozygosity.
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| http://dx.doi.org/10.1016/j.jcf.2004.01.007 | DOI Listing |
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