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 patien...
Topics
- Base Sequence
- Child
- Child, Preschool
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- DNA
- Female
- Gene Deletion
- Gene Frequency
- Haplotypes
- Humans
- Infant