CTNS mRNA molecular analysis revealed a novel mutation in a child with infantile nephropathic cystinosis: a case report.

Svetlana PapizhVictoria SerzhanovaAlexandra Yu FilatovaMikhail SkoblovVyacheslav TabakovLambert van den HeuvelElena LevtchenkoLarisa Prikhodina

Published in: BMC nephrology (2019)

Analysis of CTNS gene transcript allowed to identify a large homozygous deletion in the patient with infantile nephropathic cystinosis. Mutational detection at RNA level may be an efficient tool to establish the genetic defect in some cystinosis patients.

Keyphrases

end stage renal disease
genome wide
newly diagnosed
ejection fraction
chronic kidney disease
copy number
prognostic factors
single cell
rna seq
label free