Article
Mutation analysis and haplotype correlation for 139 cystic fibrosis patients from the Nebraska Regional Cystic Fibrosis Center.
Human mutation - 1 Jan 1993
Traystman M D, Schulte N, Colombo J L, Sammut P H, Reilly P, Patel C, Acquazzino D, Simanek B, Anderson R, Kimberling W J
Abstract excerpt
Cystic fibrosis (CF) is the most common autosomal recessive disorder in Caucasian populations with an approximate frequency of one in 2,500 live births and a carrier frequency of one in 25. We studied 400 individuals seen at The Nebraska Regional Cystic Fibrosis Center that included 139 CF patients, 206 parents, and 55 unaffected siblings to determine the frequency of the delta F508, R117H, G542X, S549R/N, G551D,...
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