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10.3760/cma.j.issn.1003-9406.2019.08.020 http://scihub22266oqcxt.onion/10.3760/cma.j.issn.1003-9406.2019.08.020 31400140!ä!31400140 Warning: Undefined variable $yww in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 538 Warning: Undefined variable $yww in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 538       Zhonghua+Yi+Xue+Yi+Chuan+Xue+Za+Zhi 2019 ; 36 (8): 834-836 Nephropedia Template TP {{tp|p=31400140|t=2019. Clinical features and TRPM6 mutations of an infant with hypomagnesemia with secondary hypocalcemia |pdf=|usr=}}{{31400140}} gab.com Text Clinical features and TRPM6 mutations of an infant with hypomagnesemia with secondary hypocalcemia JO: Zhonghua Yi Xue Yi Chuan Xue Za Zhi http://www.kidney.de/pget.php?&tw=1&pmid=31400140 #FOAvip OBJECTIVE: To explore the clinical features and mutations of the TRPM6 gene in an infant featuring hypomagnesemia and secondary hypocalcemia. METHODS: Clinical data of the patient was collected. Genomic DNA was extracted from peripheral blood samples from the patient and her parents. Targeted exome sequencing was carried out to screen the potential mutations. Suspected mutations were verified by Sanger sequencing. RESULTS: A novel homozygous c.5538delA (p.Q1846Qfs*2) mutation in the TRPM6 gene was identified in the proband, for which both of her parents were heterozygous carriers. CONCLUSION: The homozygous frameshift mutation of TRPM6 gene (c.5538delA) probably underlies the disease in the proband. The finding has expanded the mutation spectrum of TRPM6 gene. Twit Text FOAVip Clinical features and TRPM6 mutations of an infant with hypomagnesemia with secondary hypocalcemia ????Zhonghua Yi Xue Yi Chuan Xue Za Zhi http://www.kidney.de/pget.php?&tw=1&pmid=31400140 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=31400140 #FOAvip English Wikipedia <ref>{{Cite pmid|31400140}}</ref> Clinical features and TRPM6 mutations of an infant with hypomagnesemia with secondary hypocalcemia #MMPMID31400140 Yang Z; Wang Y; Chen G Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2019[Aug]; 36 (8): 834-836 PMID31400140show ga OBJECTIVE: To explore the clinical features and mutations of the TRPM6 gene in an infant featuring hypomagnesemia and secondary hypocalcemia. METHODS: Clinical data of the patient was collected. Genomic DNA was extracted from peripheral blood samples from the patient and her parents. Targeted exome sequencing was carried out to screen the potential mutations. Suspected mutations were verified by Sanger sequencing. RESULTS: A novel homozygous c.5538delA (p.Q1846Qfs*2) mutation in the TRPM6 gene was identified in the proband, for which both of her parents were heterozygous carriers. CONCLUSION: The homozygous frameshift mutation of TRPM6 gene (c.5538delA) probably underlies the disease in the proband. The finding has expanded the mutation spectrum of TRPM6 gene. |DNA Mutational Analysis[MESH] |Female[MESH] |Frameshift Mutation[MESH] |Humans[MESH] |Hypocalcemia/*genetics[MESH] |Infant[MESH] |Magnesium Deficiency/*congenital/genetics[MESH] Clinical features and TRPM6 mutations of an infant with hypomagnesemi(epmc).pdf DeepDyve Pubget Overpricing