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10.1093/ndt/gfi093 http://scihub22266oqcxt.onion/10.1093/ndt/gfi093 16221718!ä!16221718 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 245.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 245.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Nephrol+Dial+Transplant 2006 ; 21 (1): 217-20 Nephropedia Template TP {{tp|p=16221718|t=2006. Gitelman syndrome: genetic and expression analysis of the thiazide-sensitive sodium-chloride transporter in blood cells |pdf=|usr=}}{{16221718}} gab.com Text Gitelman syndrome: genetic and expression analysis of the thiazide-sensitive sodium-chloride transporter in blood cells JO: Nephrol Dial Transplant http://www.kidney.de/pget.php?&tw=1&pmid=16221718 #FOAvip 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. Twit Text FOAVip Gitelman syndrome: genetic and expression analysis of the thiazide-sensitive sodium-chloride transporter in blood cells ????Nephrol Dial Transplant http://www.kidney.de/pget.php?&tw=1&pmid=16221718 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=16221718 #FOAvip English Wikipedia <ref>{{Cite pmid|16221718}}</ref> Gitelman syndrome: genetic and expression analysis of the thiazide-sensitive sodium-chloride transporter in blood cells #MMPMID16221718 Riancho JA; Saro G; Sanudo C; Izquierdo MJ; Zarrabeitia MT Nephrol Dial Transplant 2006[Jan]; 21 (1): 217-20 PMID16221718show ga 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. |*Genetic Predisposition to Disease[MESH] |*Mutation[MESH] |Adult[MESH] |Alkalosis/blood/diagnosis/drug therapy/*genetics[MESH] |Base Sequence[MESH] |Cells, Cultured[MESH] |Erythrocytes[MESH] |Gene Expression Regulation[MESH] |Humans[MESH] |Hypokalemia/diagnosis/drug therapy/*genetics[MESH] |Magnesium/*blood[MESH] |Male[MESH] |Molecular Sequence Data[MESH] |Prognosis[MESH] |RNA/analysis[MESH] |Reverse Transcriptase Polymerase Chain Reaction[MESH] |Sodium Chloride Symporters/*genetics[MESH] |Syndrome[MESH]Gitelman syndrome: genetic and expression analysis of the thiazide-sen(epmc).pdf DeepDyve Pubget Overpricing