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Pubmed ID :30049680
Publication Date : //

Biallelic Expression of Mucin-1 in Autosomal Dominant Tubulointerstitial Kidney Disease: Implications for Nongenetic Disease Recognition.


Providing the correct diagnosis for patients with tubulointerstitial kidney disease and secondary degenerative disorders, such as hypertension, remains a challenge. The autosomal dominant tubulointerstitial kidney disease (ADTKD) subtype caused by mutations (ADTKD-) is particularly difficult to diagnose, because the mutational hotspot is a complex repeat domain, inaccessible with routine sequencing techniques. Here, we further evaluated SNaPshot minisequencing as a technique for diagnosing ADTKD- and assessed immunodetection of the disease-associated mucin 1 frameshift protein (MUC1-fs) as a nongenetic technique.

Authors : Knaup Karl X , Hackenbeck Thomas , Popp Bernt , Stoeckert Johanna , Wenzel Andrea , Büttner-Herold Maike , Pfister Frederick , Schueler Markus , Seven Didem , May Annette M , Halbritter Jan , Gröne Hermann-Josef , Reis André , Beck Bodo B , Amann Kerstin , Ekici Arif B , Wiesener Michael S ,

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