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rdf:type |
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lifeskim:mentions |
umls-concept:C0017337,
umls-concept:C0020792,
umls-concept:C0030705,
umls-concept:C0056889,
umls-concept:C0205207,
umls-concept:C0205314,
umls-concept:C0205419,
umls-concept:C0384156,
umls-concept:C0679622,
umls-concept:C0796344,
umls-concept:C1457887
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pubmed:issue |
5
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pubmed:dateCreated |
2009-5-7
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pubmed:abstractText |
The defect in chloride and sodium transport in cystic fibrosis (CF) patients is a consequence of CF transmembrane conductance regulator (CFTR) loss of function and an abnormal interaction between CFTR and the epithelial sodium channel (ENaC). A few patients were described with CF-like symptoms, a single CFTR mutation, and an ENaC mutation.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
|
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pubmed:status |
MEDLINE
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pubmed:month |
May
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pubmed:issn |
1931-3543
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pubmed:author |
pubmed-author:AzadAbul KalamAK,
pubmed-author:BoursVincentV,
pubmed-author:CassimanJean-JacquesJJ,
pubmed-author:CuppensHarryH,
pubmed-author:KoulischerLucienL,
pubmed-author:MutesaLéonL,
pubmed-author:MutwaPhilippe RutwazaPR,
pubmed-author:NgendahayoLouisL,
pubmed-author:RulisaStephenS,
pubmed-author:RusingizaEmmanuel KamanziEK,
pubmed-author:SegersKarinK,
pubmed-author:VanbellinghenJean-FrançoisJF,
pubmed-author:VerhaegheCatherineC
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pubmed:issnType |
Electronic
|
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pubmed:volume |
135
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
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pubmed:pagination |
1233-42
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pubmed:meshHeading |
pubmed-meshheading:19017867-Adolescent,
pubmed-meshheading:19017867-African Continental Ancestry Group,
pubmed-meshheading:19017867-Child,
pubmed-meshheading:19017867-Child, Preschool,
pubmed-meshheading:19017867-Chromatography, High Pressure Liquid,
pubmed-meshheading:19017867-Cystic Fibrosis,
pubmed-meshheading:19017867-Cystic Fibrosis Transmembrane Conductance Regulator,
pubmed-meshheading:19017867-Epithelial Sodium Channel,
pubmed-meshheading:19017867-Female,
pubmed-meshheading:19017867-Genetic Variation,
pubmed-meshheading:19017867-Humans,
pubmed-meshheading:19017867-Male,
pubmed-meshheading:19017867-Mutation,
pubmed-meshheading:19017867-Phenotype,
pubmed-meshheading:19017867-Polymorphism, Genetic,
pubmed-meshheading:19017867-Rwanda
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pubmed:year |
2009
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pubmed:articleTitle |
Genetic analysis of Rwandan patients with cystic fibrosis-like symptoms: identification of novel cystic fibrosis transmembrane conductance regulator and epithelial sodium channel gene variants.
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pubmed:affiliation |
Department of Human Genetics, Centre Hospitalier Universitaire-Sart-Tilman, Grappe Interdisciplinaire de Genoprotéomique Appliquée-Research, University of Liège, Liège, Belgium.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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