Article
NGS nominated CELA1, HSPG2, and KCNK5 as candidate genes for predisposition to Balkan endemic nephropathy.
BioMed research international - 1 Jan 2014
Toncheva D, Mihailova-Hristova M, Vazharova R, Staneva R, Karachanak S, Dimitrov P, Simeonov V, Ivanov S, Balabanski L, Serbezov D, Malinov M, Stefanovic V, Čukuranović R, Polenakovic M, Jankovic-Velickovic L, Djordjevic V, Jevtovic-Stoimenov T, Plaseska-Karanfilska D, Galabov A, Djonov V, Dimova I
Abstract excerpt
Balkan endemic nephropathy (BEN) is a familial chronic tubulointerstitial disease with insidious onset and slow progression leading to terminal renal failure. The results of molecular biological investigations propose that BEN is a multifactorial disease with genetic predisposition to environmental risk agents. Exome sequencing of 22 000 genes with Illumina Nextera Exome Enrichment Kit was performed on 22 DNA...
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