TY  - GEN
AU  - Highsmith,W E
AU  - Burch,L H
AU  - Zhou,Z
AU  - Olsen,J C
AU  - Boat,T E
AU  - Spock,A
AU  - Gorvoy,J D
AU  - Quittel,L
AU  - Friedman,K J
AU  - Silverman,L M
TI  - A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations
SN  - 0028-4793
PY  - 1994///1013
KW  - Adolescent
KW  - Adult
KW  - Base Sequence
KW  - Child
KW  - Child, Preschool
KW  - Chloride Channels
KW  - metabolism
KW  - Chlorides
KW  - analysis
KW  - Chromosomes, Human, Pair 17
KW  - Cystic Fibrosis
KW  - diagnosis
KW  - Cystic Fibrosis Transmembrane Conductance Regulator
KW  - Female
KW  - Humans
KW  - Introns
KW  - Lung Diseases, Obstructive
KW  - Male
KW  - Membrane Proteins
KW  - genetics
KW  - Molecular Sequence Data
KW  - Mutation
KW  - Nasal Mucosa
KW  - Polymerase Chain Reaction
KW  - RNA, Messenger
KW  - Sweat
KW  - chemistry
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S
UR  - https://doi.org/10.1056/NEJM199410133311503
ER  -