Cystic fibrosis: molecular biology and therapeutic implications.

doi:10.1126/science.1375392

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Article

Cystic fibrosis: molecular biology and therapeutic implications.

Science (New York, N.Y.) - 8 May 1992

Collins F S

Abstract excerpt

Cystic fibrosis is the most common potentially lethal autosomal recessive disease of Caucasians, affecting 1 in 2500 newborns. Since the recent identification of the gene that is defective in patients with cystic fibrosis, a wealth of information about gene structure, the mutational basis of dise...

Topics

Chromosome Deletion
Chromosome Mapping
Cystic Fibrosis
Cystic Fibrosis Transmembrane Conductance Regulator
Frameshift Mutation
Genetic Therapy
Humans
Membrane Proteins
Mutation
RNA Splicing

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