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10.12688/f1000research.19006.2 http://scihub22266oqcxt.onion/10.12688/f1000research.19006.2 C6694456!6694456!31448104     free     free     free 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       F1000Res 2019 ; 8 (ä): ä Nephropedia Template TP {{tp|p=31448104|t=2019. Case Report: Investigation and molecular genetic diagnosis of familial hypomagnesaemia |pdf=|usr=}}{{31448104}} gab.com Text Case Report: Investigation and molecular genetic diagnosis of familial hypomagnesaemia JO: F1000Res http://www.kidney.de/pget.php?&tw=1&pmid=31448104 #FOAvip Genetic mutations causing familial hypomagnesaemia syndromes are well-recognised.  Affected patients can present with severe symptoms of hypomagnesaemia, such as seizures or cardiac arrhythmia.  We report an affected child, from a consanguineous family, who presented in the first weeks of life with seizures secondary to hypomagnesaemia, without other associated clinical features.  We performed whole exome sequencing in the affected child and segregation analysis within the family, which revealed a novel homozygous missense mutation in TRPM6, which was confirmed as a heterozygous allele in both parents and two younger siblings who had transient hypomagnesaemia. Using in silico modelling, we provide evidence that the missense variant p.(K1098E) in TRPM6 is pathogenic, as it disrupts stabilising TRP domain interactions. Management of familial hypomagnesaemia relies on prompt recognition, early magnesium replacement and lifelong monitoring. Twit Text FOAVip Case Report: Investigation and molecular genetic diagnosis of familial hypomagnesaemia ????F1000Res http://www.kidney.de/pget.php?&tw=1&pmid=31448104 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=31448104 #FOAvip English Wikipedia <ref>{{Cite pmid|31448104}}</ref> Case Report: Investigation and molecular genetic diagnosis of familial hypomagnesaemia #MMPMID31448104 Willows J; Al Badi M; Richardson C; Al Sinani A; Edwards N; Rice S; Sayer JA F1000Res 2019[]; 8 (ä): ä PMID31448104show ga Genetic mutations causing familial hypomagnesaemia syndromes are well-recognised.  Affected patients can present with severe symptoms of hypomagnesaemia, such as seizures or cardiac arrhythmia.  We report an affected child, from a consanguineous family, who presented in the first weeks of life with seizures secondary to hypomagnesaemia, without other associated clinical features.  We performed whole exome sequencing in the affected child and segregation analysis within the family, which revealed a novel homozygous missense mutation in TRPM6, which was confirmed as a heterozygous allele in both parents and two younger siblings who had transient hypomagnesaemia. Using in silico modelling, we provide evidence that the missense variant p.(K1098E) in TRPM6 is pathogenic, as it disrupts stabilising TRP domain interactions. Management of familial hypomagnesaemia relies on prompt recognition, early magnesium replacement and lifelong monitoring. äCase Report: Investigation and molecular genetic diagnosis of familial(epmc).pdf DeepDyve Pubget Overpricing