Use my Search Websuite to scan PubMed, PMCentral, Journal Hosts and Journal Archives, FullText. Kick-your-searchterm to multiple Engines kick-your-query now !>

A dictionary by aggregated review articles of nephrology, medicine and the life sciences Your one-stop-run pathway from word to the immediate pdf of peer-reviewed on-topic knowledge.

10.1016/j.ymgmr.2015.10.007 http://scihub22266oqcxt.onion/10.1016/j.ymgmr.2015.10.007 C5471396!5471396!28649545     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       Mol+Genet+Metab+Rep 2015 ; 5 (ä): 63-6 Nephropedia Template TP {{tp|p=28649545|t=2015. CTNS mutations in publicly-available human cystinosis cell lines |pdf=|usr=}}{{28649545}} gab.com Text CTNS mutations in publicly-available human cystinosis cell lines JO: Mol Genet Metab Rep http://www.kidney.de/pget.php?&tw=1&pmid=28649545 #FOAvip Patient samples play an important role in the study of inherited metabolic disorders. Open-access biorepositories distribute such samples. Unfortunately, not all clinically-characterized samples come with reliable genotype information. During studies directed toward population frequency assessments of cystinosis, a rare heritable disorder, we sequenced the CTNS gene from 14 cystinosis-related samples obtained from the Coriell Cell Repository. As a result, the disease genotypes of 7 samples were determined for the first time. The reported disease genotypes of 2 additional samples were found to be incorrect. Furthermore, we identified and experimentally confirmed a novel mutation, c.225 + 5G > A, which causes skipping of the 5th exon and is associated with infantile nephropathic cystinosis. Twit Text FOAVip CTNS mutations in publicly-available human cystinosis cell lines ????Mol Genet Metab Rep http://www.kidney.de/pget.php?&tw=1&pmid=28649545 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=28649545 #FOAvip English Wikipedia <ref>{{Cite pmid|28649545}}</ref> CTNS mutations in publicly-available human cystinosis cell lines #MMPMID28649545 Zykovich A; Kinkade R; Royal G; Zankel T Mol Genet Metab Rep 2015[Dec]; 5 (ä): 63-6 PMID28649545show ga Patient samples play an important role in the study of inherited metabolic disorders. Open-access biorepositories distribute such samples. Unfortunately, not all clinically-characterized samples come with reliable genotype information. During studies directed toward population frequency assessments of cystinosis, a rare heritable disorder, we sequenced the CTNS gene from 14 cystinosis-related samples obtained from the Coriell Cell Repository. As a result, the disease genotypes of 7 samples were determined for the first time. The reported disease genotypes of 2 additional samples were found to be incorrect. Furthermore, we identified and experimentally confirmed a novel mutation, c.225 + 5G > A, which causes skipping of the 5th exon and is associated with infantile nephropathic cystinosis. äCTNS mutations in publicly-available human cystinosis cell lines (epmc).pdf DeepDyve Pubget Overpricing