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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1
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pubmed:dateCreated |
2005-12-28
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pubmed:abstractText |
Gitelman syndrome is caused by mutations of the SLC12A3 gene, which encodes the thiazide-sensitive NaCl transporter NCCT. Although several mutations causing Gitelman syndrome have been described, their molecular consequences have been rarely studied. We report a patient with Gitelman syndrome due to a mutation in the GT donor splicing site of intron 9. The analysis of RNA from peripheral blood cells showed a complete deletion of exon 9. This case report confirms the feasibility of using readily accessible blood cells to study the expression of the SLC12A3 gene, a procedure that may facilitate further studies of the functional genomics of Gitelman syndrome.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jan
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pubmed:issn |
0931-0509
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
21
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
217-20
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pubmed:meshHeading |
pubmed-meshheading:16221718-Adult,
pubmed-meshheading:16221718-Alkalosis,
pubmed-meshheading:16221718-Base Sequence,
pubmed-meshheading:16221718-Cells, Cultured,
pubmed-meshheading:16221718-Erythrocytes,
pubmed-meshheading:16221718-Gene Expression Regulation,
pubmed-meshheading:16221718-Genetic Predisposition to Disease,
pubmed-meshheading:16221718-Humans,
pubmed-meshheading:16221718-Hypokalemia,
pubmed-meshheading:16221718-Magnesium,
pubmed-meshheading:16221718-Male,
pubmed-meshheading:16221718-Molecular Sequence Data,
pubmed-meshheading:16221718-Mutation,
pubmed-meshheading:16221718-Prognosis,
pubmed-meshheading:16221718-RNA,
pubmed-meshheading:16221718-Reverse Transcriptase Polymerase Chain Reaction,
pubmed-meshheading:16221718-Sodium Chloride Symporters,
pubmed-meshheading:16221718-Syndrome,
pubmed-meshheading:16221718-Thiazides
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pubmed:year |
2006
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pubmed:articleTitle |
Gitelman syndrome: genetic and expression analysis of the thiazide-sensitive sodium-chloride transporter in blood cells.
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pubmed:affiliation |
Department Internal Medicine, Hospital U.M. Valdecilla, 39008 Santander, Spain. rianchoj@unican.es
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pubmed:publicationType |
Journal Article,
Case Reports
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