A mutation in the cystic fibrosis transmembrane conductance regulator gene associated with elevated sweat chloride concentrations in the absence of cystic fibrosis

Human Molecular Genetics

Volumn 7, Issue 4, 1998, Pages 729-735

  Mickle, John E ^a   Macek Jr , Milan ^a,c   Fulmer Smentek, Stephanie B ^a   Egan, Michelle M ^a   Schwiebert, Erik ^a,d   Guggino, William ^a   Moss, Richard ^b   Cutting, Garry R ^a  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b STANFORD UNIVERSITY MEDICAL CENTER   (United States)

^c UNIVERSITY HOSPITAL MOTOL   (Czech Republic)

^d UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CHLORIDE; CHLORIDE CHANNEL; CYCLIC AMP; TRANSMEMBRANE CONDUCTANCE REGULATOR;

ADULT; AGENESIS; AIRWAY; ALLELE; ARTICLE; CASE REPORT; CHLORIDE CURRENT; CYSTIC FIBROSIS; FEMALE; GENE DELETION; GENE MUTATION; HOMOZYGOSITY; HUMAN; HUMAN CELL; LUNG DISEASE; MALE; MALE INFERTILITY; NONSENSE MUTATION; PANCREAS DISEASE; PATCH CLAMP; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SCHOOL CHILD; SOUTHERN BLOTTING; SWEAT GLAND; SWEAT TEST; VAS DEFERENS;

CHILD; CHLORIDES; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; FEMALE; HUMANS; MIDDLE AGED; MUTATION; PEDIGREE; RNA, MESSENGER; SWEAT;

EID: 0031900788     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/7.4.729     Document Type: Article

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