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10.1038/s41439-018-0016-8 http://scihub22266oqcxt.onion/10.1038/s41439-018-0016-8 C6039481!6039481!30002862     free     free     free Deprecated: Implicit conversion from float 209.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 209.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 209.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 209.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 209.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 209.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Hum+Genome+Var 2018 ; 5 (ä): ä Nephropedia Template TP {{tp|p=30002862|t=2018. Novel variants in COL4A4 and COL4A5 are rare causes of FSGS in two unrelated families |pdf=|usr=}}{{30002862}} gab.com Text Novel variants in COL4A4 and COL4A5 are rare causes of FSGS in two unrelated families JO: Hum Genome Var http://www.kidney.de/pget.php?&tw=1&pmid=30002862 #FOAvip We report two female patients with focal segmental glomerulosclerosis and chronic kidney disease. The first patient was found to have a heterozygous, de novo, pathogenic variant in COL4A5 (c.141+1G>A, IVS2+1G>A), which is associated with Alport syndrome. The second patient was found to have a heterozygous, likely pathogenic variant in COL4A4 (c.2842G>T). Both these variants in COL4A5 and COL4A4 are novel, and they were detected using whole exome sequencing and gene panel testing, respectively. Additionally, we discuss the complexities of diagnosis in such cases and the benefits of using the abovementioned diagnostic approaches. Twit Text FOAVip Novel variants in COL4A4 and COL4A5 are rare causes of FSGS in two unrelated families ????Hum Genome Var http://www.kidney.de/pget.php?&tw=1&pmid=30002862 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=30002862 #FOAvip English Wikipedia <ref>{{Cite pmid|30002862}}</ref> Novel variants in COL4A4 and COL4A5 are rare causes of FSGS in two unrelated families #MMPMID30002862 Hines SL; Agarwal A; Ghandour M; Aslam N; Mohammad AN; Atwal PS Hum Genome Var 2018[]; 5 (ä): ä PMID30002862show ga We report two female patients with focal segmental glomerulosclerosis and chronic kidney disease. The first patient was found to have a heterozygous, de novo, pathogenic variant in COL4A5 (c.141+1G>A, IVS2+1G>A), which is associated with Alport syndrome. The second patient was found to have a heterozygous, likely pathogenic variant in COL4A4 (c.2842G>T). Both these variants in COL4A5 and COL4A4 are novel, and they were detected using whole exome sequencing and gene panel testing, respectively. Additionally, we discuss the complexities of diagnosis in such cases and the benefits of using the abovementioned diagnostic approaches. äNovel variants in COL4A4 and COL4A5 are rare causes of FSGS in two unr(epmc).pdf DeepDyve Pubget Overpricing