A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations. [electronic resource]
Producer: 19941013Description: 974-80 p. digitalISSN:- 0028-4793
- Adolescent
- Adult
- Base Sequence
- Child
- Child, Preschool
- Chloride Channels -- metabolism
- Chlorides -- analysis
- Chromosomes, Human, Pair 17
- Cystic Fibrosis -- diagnosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- Female
- Humans
- Introns
- Lung Diseases, Obstructive -- diagnosis
- Male
- Membrane Proteins -- genetics
- Molecular Sequence Data
- Mutation
- Nasal Mucosa -- metabolism
- Polymerase Chain Reaction
- RNA, Messenger -- metabolism
- Sweat -- chemistry
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
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