Submitted Phenotype Details
This mutation was found in two male patients (30y and 34y). Both have PS and negative sweat-chloride tests.
Male 30y: moderate lung disease and CBAVD, R117H was found on the other allele.
Male 34y: no lung disease, CUAVD and hydrocele. G551D was found on the other allele.
(Jezequel et all 1996 and pers. corr. Dubourg)