Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes: The polymorphic (TG)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation

Journal of Clinical Investigation

Volumn 101, Issue 2, 1998, Pages 487-496

  Cuppens, Harry ^a,d   Lin, Wei ^a   Jaspers, Martine ^a   Costes, Bruno ^b   Teng, Hui ^a   Vankeerberghen, Anne ^a   Jorissen, Mark ^c   Droogmans, Guy ^a   Reynaert, Ingrid ^a   Goosens, Michel ^b   Nilius, Bernd ^a   Cassiman, Jean Jacques ^a  

^a UNIVERSITY OF LEUVEN   (Belgium)

^b INSERM   (France)

^c UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^d CENTER FOR HUMAN GENETICS   (Belgium)

Author keywords

Congenital bilateral absence of the vas deferens; Cystic fibrosis; Cystic fibrosis transmembrane conductance regulator; Haplotype background; Splicing

Indexed keywords

CHLORIDE; TRANSMEMBRANE CONDUCTANCE REGULATOR;

ANIMAL CELL; ANIMAL TISSUE; ARTICLE; CYSTIC FIBROSIS; FEMALE; GENE LOCUS; GENE MUTATION; GENETIC POLYMORPHISM; MEMBRANE CONDUCTANCE; NONHUMAN; PENETRANCE; PHENOTYPE; PRIORITY JOURNAL; REGULATOR GENE; TOAD;

EID: 0032518518     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI639     Document Type: Article

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