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10.1093/ckj/sft035 http://scihub22266oqcxt.onion/10.1093/ckj/sft035 C4400480!4400480!26064490     free     free     free Deprecated: Implicit conversion from float 227.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Clin+Kidney+J 2013 ; 6 (3): 305-7 Nephropedia Template TP {{tp|p=26064490|t=2013. Nail-patella syndrome?a novel mutation in the LMX1B gene |pdf=|usr=}}{{26064490}} gab.com Text Nail-patella syndrome a novel mutation in the LMX1B gene JO: Clin Kidney J http://www.kidney.de/pget.php?&tw=1&pmid=26064490 #FOAvip Nail-patella syndrome (NPS) is an autosomal-dominant pleiotropic disorder characterized by dyplasia of finger nails, skeletal anomalies and frequently renal disease. In the reported case, genetic analysis revealed a new missense mutation in the homeodomain of LMX1B, presumed to abolish DNA binding (c.725T>C, p.Val242Ala). A missense mutation at codon 725 was identified, where thymine was replaced by cytosine which led to the replacement of valine by alanine at position 242. It was not detected in both parents. A 2005 study by Bongers et al. described a significant association between the presence of clinically relevant renal involvement in an NPS patient and a positive family history of nephropathy, which was lacking in our case. Twit Text FOAVip Nail-patella syndrome a novel mutation in the LMX1B gene ????Clin Kidney J http://www.kidney.de/pget.php?&tw=1&pmid=26064490 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=26064490 #FOAvip English Wikipedia <ref>{{Cite pmid|26064490}}</ref> Nail-patella syndrome?a novel mutation in the LMX1B gene #MMPMID26064490 Nair RR; Unni VN; Indu KN; Nampoothiri S; Mathew A; Kurian G; Vimala A Clin Kidney J 2013[Jun]; 6 (3): 305-7 PMID26064490show ga Nail-patella syndrome (NPS) is an autosomal-dominant pleiotropic disorder characterized by dyplasia of finger nails, skeletal anomalies and frequently renal disease. In the reported case, genetic analysis revealed a new missense mutation in the homeodomain of LMX1B, presumed to abolish DNA binding (c.725T>C, p.Val242Ala). A missense mutation at codon 725 was identified, where thymine was replaced by cytosine which led to the replacement of valine by alanine at position 242. It was not detected in both parents. A 2005 study by Bongers et al. described a significant association between the presence of clinically relevant renal involvement in an NPS patient and a positive family history of nephropathy, which was lacking in our case. äNail-patella syndrome?a novel mutation in the LMX1B gene (epmc).pdf DeepDyve Pubget Overpricing