Article
Molecular diagnosis of cystic fibrosis.
Clinics in laboratory medicine - 1 Dec 1995
Kant J A, Mifflin T E, McGlennen R, Rice E, Naylor E, Cooper D L
Abstract excerpt
The clinical and pathologic features of patients with cystic fibrosis are summarized, and generalized genotype or phenotype correlations are discussed in this article. Incorporation of modern molecular biologic techniques into a rapid, cost-efficient, and specific diagnostic laboratory test is ou...
Topics
- Base Sequence
- Clinical Laboratory Techniques
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- DNA Mutational Analysis
- DNA Primers
- DNA Probes
- Electrophoresis, Polyacrylamide Gel
- Gene Deletion
- Genetic Counseling
- Genotype
- Humans
- Infant, Newborn
- Models, Genetic
- Molecular Sequence Data
- Neonatal Screening
- Phenotype
- Sequence Analysis, DNA