Article
Delayed diagnosis of cystic fibrosis in children with a rare genotype (delta F508/R117H).
Journal of paediatrics and child health - 1 Jun 1995
Fitzgerald D, Van Asperen P, Henry R, Waters D, Freelander M, Wilson M, Wilcken B, Gaskin K
Abstract excerpt
OBJECTIVE: In neonatal screening for cystic fibrosis (CF), infants recognised as delta F508 heterozygotes require a sweat test to confirm the diagnosis. However, compound heterozygotes with delta F508 and the R117H mutation are known to have non-diagnostic sweat chlorides (< 60 mmol/L) at an early age. As genotyping for rare mutations is not readily available in Australia, there is a need to determine whether...
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