Article
Identification of the M1101K mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and complete detection of cystic fibrosis mutations in the Hutterite population.
American journal of human genetics - 1 Mar 1993
Zielenski J, Fujiwara T M, Markiewicz D, Paradis A J, Anacleto A I, Richards B, Schwartz R H, Klinger K W, Tsui L C, Morgan K
Abstract excerpt
The Hutterite population is a genetic isolate with an increased incidence of cystic fibrosis (CF). Previously we identified three CF haplotypes defined by polymorphisms flanking the CF transmembrane conductance regulator (CFTR) gene. delta F508 was present on one of the haplotypes in only 35% of...
Topics
- Adolescent
- Amino Acid Sequence
- Base Sequence
- Cells, Cultured
- Child
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- DNA
- Ethnicity
- Female
- Genetic Techniques
- Germany
- Haplotypes
- Humans