Mild CF in a delta F508/R347H compound heterozygote woman: does the manifestation of this genotype differ in the two sexes?

Abstract excerpt

A woman with unusually mild cystic fibrosis (CF) and normal sweat chloride levels is reported to have delta F508 deletion on one CF chromosome and the rare mutation R347H on the other, the first known female with this mutation. Of the other eight cases with R347H mutation mentioned in the literature, all five patients whose age and sex were given in the reports were men and had congenital bilateral absence of vas...

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