Noninvasive Immunohistochemical Diagnosis and Novel MUC1 Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease

BACKGROUND: Autosomal dominant tubulointerstitial kidney disease caused by mucin-1 gene (MUC1) mutations (ADTKD-MUC1) is characterized by progressive kidney failure. Genetic evaluation for ADTKD-MUC1 specifically tests for a cytosine duplication that creates a unique frameshift protein (MUC1fs). Our...

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Detalhes bibliográficos
Publicado no:J Am Soc Nephrol
Main Authors: Živná, Martina, Kidd, Kendrah, Přistoupilová, Anna, Barešová, Veronika, DeFelice, Mathew, Blumenstiel, Brendan, Harden, Maegan, Conlon, Peter, Lavin, Peter, Connaughton, Dervla M., Hartmannová, Hana, Hodaňová, Kateřina, Stránecký, Viktor, Vrbacká, Alena, Vyleťal, Petr, Živný, Jan, Votruba, Miroslav, Sovová, Jana, Hůlková, Helena, Robins, Victoria, Perry, Rebecca, Wenzel, Andrea, Beck, Bodo B., Seeman, Tomáš, Viklický, Ondřej, Rajnochová-Bloudíčková, Sylvie, Papagregoriou, Gregory, Deltas, Constantinos C., Alper, Seth L., Greka, Anna, Bleyer, Anthony J., Kmoch, Stanislav
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Nephrology 2018
Assuntos:
Clinical Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6115665/
https://ncbi.nlm.nih.gov/pubmed/29967284
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1681/ASN.2018020180
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