Novel MUC1 variant identified by massively parallel sequencing explains interstitial kidney disease in a large Dutch family - de Haan, Amber; van Eerde, Albertien M; Eijgelsheim, Mark; Rump, Patrick; van der Zwaag, Bert; Hennekam, Eric; Živná, Martina; Kmoch, Stanislav; Bleyer, Anthony J; Kidd, Kendrah; Vogt, Liffert; Knoers, Nine V A M; et al. (Kidney international, 2023)
Keywords: mutace; nemoci ledvin; rodokmen; High-Throughput Nucleotide Sequencing; lidé; mucin 1; Nephritis, Interstitial; Pedigree; intersticiální nefritida; Mutation; vysoce účinné nukleotidové sekvenování; Mucin-1; Kidney Diseases; Humans