Mutational screening of inverted formin 2 in adult-onset focal segmental glomerulosclerosis or minimal change patients from the Czech Republic.

Marketa SafarikovaJitka StekrovaEva HonsovaVera HorinovaVladimir TesarJana Reiterova

Published in: BMC medical genetics (2018)

The INF2 mutational screening is useful in familial FSGS cases as well as in patients with an unknown cause for their ESRD, but with a positive family history. INF2 seems to be not only the cause of FSGS, but also of ESRD of unknown etiology. Our study has confirmed that the HRM analysis is a very useful method for the identification of single nucleotide substitutions.

Keyphrases

end stage renal disease
chronic kidney disease
peritoneal dialysis
ejection fraction
newly diagnosed
prognostic factors
patient reported outcomes
patient reported
bioinformatics analysis