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10.1038/ng901 http://scihub22266oqcxt.onion/10.1038/ng901 12032570!ä!12032570 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Nat+Genet 2002 ; 31 (2): 171-4 Nephropedia Template TP {{tp|p=12032570|t=2002. Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia |pdf=|usr=}}{{12032570}} gab.com Text Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia JO: Nat Genet http://www.kidney.de/pget.php?&tw=1&pmid=12032570 #FOAvip Familial hypomagnesemia with secondary hypocalcemia (OMIM 602014) is an autosomal recessive disease that results in electrolyte abnormalities shortly after birth. Affected individuals show severe hypomagnesemia and hypocalcemia, which lead to seizures and tetany. The disorder has been thought to be caused by a defect in the intestinal absorption of magnesium, rather than by abnormal renal loss of magnesium. Restoring the concentrations of serum magnesium to normal values by high-dose magnesium supplementation can overcome the apparent defect in magnesium absorption and in serum concentrations of calcium. Life-long magnesium supplementation is required to overcome the defect in magnesium handling by these individuals. We previously mapped the gene locus to chromosome 9q in three large inbred kindreds from Israel. Here we report that mutation of TRPM6 causes hypomagnesemia with secondary hypocalcemia and show that individuals carrying mutations in this gene have abnormal renal magnesium excretion. Twit Text FOAVip Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia ????Nat Genet http://www.kidney.de/pget.php?&tw=1&pmid=12032570 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=12032570 #FOAvip English Wikipedia <ref>{{Cite pmid|12032570}}</ref> Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia #MMPMID12032570 Walder RY; Landau D; Meyer P; Shalev H; Tsolia M; Borochowitz Z; Boettger MB; Beck GE; Englehardt RK; Carmi R; Sheffield VC Nat Genet 2002[Jun]; 31 (2): 171-4 PMID12032570show ga Familial hypomagnesemia with secondary hypocalcemia (OMIM 602014) is an autosomal recessive disease that results in electrolyte abnormalities shortly after birth. Affected individuals show severe hypomagnesemia and hypocalcemia, which lead to seizures and tetany. The disorder has been thought to be caused by a defect in the intestinal absorption of magnesium, rather than by abnormal renal loss of magnesium. Restoring the concentrations of serum magnesium to normal values by high-dose magnesium supplementation can overcome the apparent defect in magnesium absorption and in serum concentrations of calcium. Life-long magnesium supplementation is required to overcome the defect in magnesium handling by these individuals. We previously mapped the gene locus to chromosome 9q in three large inbred kindreds from Israel. Here we report that mutation of TRPM6 causes hypomagnesemia with secondary hypocalcemia and show that individuals carrying mutations in this gene have abnormal renal magnesium excretion. |*Mutation[MESH] |DNA Mutational Analysis[MESH] |Humans[MESH] |Hypocalcemia/etiology/*genetics[MESH] |Ion Channels/*genetics[MESH] |Magnesium/*blood[MESH] |Molecular Sequence Data[MESH] |Pedigree[MESH] |Sequence Analysis, DNA[MESH]Mutation of TRPM6 causes familial hypomagnesemia with secondary hypoca(epmc).pdf DeepDyve Pubget Overpricing