[Molecular diagnosis of cystic fibrosis].

Article

[Molecular diagnosis of cystic fibrosis].

Therapeutische Umschau. Revue therapeutique - 1 Dec 1995

Malik N J, Hergersberg M

Abstract excerpt

Cystic fibrosis [CF] is the most common autosomal recessively inherited disease in the caucasian population. Based upon the population frequency of approximately 1 in 2000 in Switzerland, the heterozygote frequency can be calculated to be 1 in 22. The genetic basis for CF has been shown to be mut...

Topics

Adolescent
Child
Child, Preschool
Chloride Channels
Cystic Fibrosis
Cystic Fibrosis Transmembrane Conductance Regulator
Genetic Carrier Screening
Genetic Therapy
Genotype
Humans
Infant, Newborn
Phenotype
Point Mutation

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