Highsmith, W E

A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations. [electronic resource] - The New England journal of medicine Oct 1994 - 974-80 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.

0028-4793

10.1056/NEJM199410133311503 doi


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