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10.1159/000068695 http://scihub22266oqcxt.onion/10.1159/000068695 12590198!ä!12590198 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 265.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 265.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 265.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Kidney+Blood+Press+Res 2002 ; 25 (6): 354-62 Nephropedia Template TP {{tp|p=12590198|t=2002. Novel NCCT gene mutations as a cause of Gitelman s syndrome and a systematic review of mutant and polymorphic NCCT alleles |pdf=|usr=}}{{12590198}} gab.com Text Novel NCCT gene mutations as a cause of Gitelman s syndrome and a systematic review of mutant and polymorphic NCCT alleles JO: Kidney Blood Press Res http://www.kidney.de/pget.php?&tw=1&pmid=12590198 #FOAvip BACKGROUND: Gitelman's syndrome (GS) is characterized by hypokalemic metabolic alkalosis, hypomagnesemia and hypocalciuria and these phenotypic features have been shown to be attributable to mutations in the gene encoding the thiazide-sensitive Na/Cl cotransporter (NCCT). Until now, 55 different mutations have been reported and most of the families affected with GS exhibit autosomal recessive inheritance. METHODS: All 26 exons of the human NCCT gene were investigated in 2 German NCCT-deficient patients and their families. Mutation detection was performed by either direct automated sequencing of polymerase chain reaction (PCR)-amplified DNA products or by sequence analysis of cloned PCR products. RESULTS: In a 47-year-old German GS female a novel non-conservative missense mutation (S314F) and a complex deletion/insertion in the NCCT gene were found to be associated with the disorder. A further novel non-conservative substitution (S402F) together with a frequently observed R209W exchange were found in a 19-year-old German GS female. CONCLUSIONS: The observation of a compound heterozygote state in both females affected and the absence of a GS phenotype in their relatives carrying a single mutant allele is consistent with an autosomal recessive pattern of inheritance. Twit Text FOAVip Novel NCCT gene mutations as a cause of Gitelman s syndrome and a systematic review of mutant and polymorphic NCCT alleles ????Kidney Blood Press Res http://www.kidney.de/pget.php?&tw=1&pmid=12590198 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=12590198 #FOAvip English Wikipedia <ref>{{Cite pmid|12590198}}</ref> Novel NCCT gene mutations as a cause of Gitelman s syndrome and a systematic review of mutant and polymorphic NCCT alleles #MMPMID12590198 Reissinger A; Ludwig M; Utsch B; Promse A; Baulmann J; Weisser B; Vetter H; Kramer HJ; Bokemeyer D Kidney Blood Press Res 2002[]; 25 (6): 354-62 PMID12590198show ga BACKGROUND: Gitelman's syndrome (GS) is characterized by hypokalemic metabolic alkalosis, hypomagnesemia and hypocalciuria and these phenotypic features have been shown to be attributable to mutations in the gene encoding the thiazide-sensitive Na/Cl cotransporter (NCCT). Until now, 55 different mutations have been reported and most of the families affected with GS exhibit autosomal recessive inheritance. METHODS: All 26 exons of the human NCCT gene were investigated in 2 German NCCT-deficient patients and their families. Mutation detection was performed by either direct automated sequencing of polymerase chain reaction (PCR)-amplified DNA products or by sequence analysis of cloned PCR products. RESULTS: In a 47-year-old German GS female a novel non-conservative missense mutation (S314F) and a complex deletion/insertion in the NCCT gene were found to be associated with the disorder. A further novel non-conservative substitution (S402F) together with a frequently observed R209W exchange were found in a 19-year-old German GS female. CONCLUSIONS: The observation of a compound heterozygote state in both females affected and the absence of a GS phenotype in their relatives carrying a single mutant allele is consistent with an autosomal recessive pattern of inheritance. |*Receptors, Drug[MESH] |*Symporters[MESH] |Adult[MESH] |Alkalosis/*genetics[MESH] |Amino Acid Sequence[MESH] |Calcium/urine[MESH] |Carrier Proteins/*genetics[MESH] |Female[MESH] |Gene Deletion[MESH] |Heterozygote[MESH] |Humans[MESH] |Hypokalemia/*genetics[MESH] |Magnesium/blood[MESH] |Middle Aged[MESH] |Molecular Sequence Data[MESH] |Mutation, Missense[MESH] |Pedigree[MESH] |Phenotype[MESH] |Sodium Chloride Symporters[MESH]Novel NCCT gene mutations as a cause of Gitelman s syndrome and a syst(epmc).pdf DeepDyve Pubget Overpricing