Article
Single molecule real time sequencing in ADTKD-MUC1 allows complete assembly of the VNTR and exact positioning of causative mutations.
Scientific reports - 8 Mar 2018
Wenzel Andrea, Altmueller Janine, Ekici Arif B, Popp Bernt, Stueber Kurt, Thiele Holger, Pannes Alois, Staubach Simon, Salido Eduardo, Nuernberg Peter, Reinhardt Richard, Reis André, Rump Patrick, Hanisch Franz-Georg, Wolf Matthias T F, Wiesener Michael, Huettel Bruno, Beck Bodo B
Abstract excerpt
Recently, the Mucin-1 (MUC1) gene has been identified as a causal gene of autosomal dominant tubulointerstitial kidney disease (ADTKD). Most causative mutations are buried within a GC-rich 60 basepair variable number of tandem repeat (VNTR), which escapes identification by massive parallel sequencing methods due to the complexity of the VNTR. We established long read single molecule real time sequencing (SMRT)...
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