NGS nominated CELA1, HSPG2, and KCNK5 as candidate genes for predisposition to Balkan endemic nephropathy.
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.
Toncheva D, et al.
Biomed Res Int. 2014;2014:920723. doi: 10.1155/2014/920723. Epub 2014 May 15.
Biomed Res Int. 2014.
PMID: 24949484
Free PMC article.
From nonannotated variants with more than 40% frequency in both patients' groups, we nominated 3 genes with possible deleterious/damaging variants--CELA1, HSPG2, and KCNK5. Mutant genes (CELA1, HSPG2, and KCNK5) in BEN patients encode proteins involved in basement m …
From nonannotated variants with more than 40% frequency in both patients' groups, we nominated 3 genes with possible deleterious/damaging va …