Variable Clinical Presentation of an MUC1 Mutation Causing Medullary Cystic Kidney Disease Type 1

BACKGROUND AND OBJECTIVES: The genetic cause of medullary cystic kidney disease type 1 was recently identified as a cytosine insertion in the variable number of tandem repeat region of MUC1 encoding mucoprotein-1 (MUC1), a protein that is present in skin, breast, and lung tissue, the gastrointestina...

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Detalhes bibliográficos
Main Authors: Bleyer, Anthony J., Kmoch, Stanislav, Antignac, Corinne, Robins, Vicki, Kidd, Kendrah, Kelsoe, John R., Hladik, Gerald, Klemmer, Philip, Knohl, Stephen J., Scheinman, Steven J., Vo, Nam, Santi, Ann, Harris, Alese, Canaday, Omar, Weller, Nelson, Hulick, Peter J., Vogel, Kristen, Rahbari-Oskoui, Frederick F., Tuazon, Jennifer, Deltas, Constantinos, Somers, Douglas, Megarbane, Andre, Kimmel, Paul L., Sperati, C. John, Orr-Urtreger, Avi, Ben-Shachar, Shay, Waugh, David A., McGinn, Stella, Hodaňová, Kateřina, Vylet'al, Petr, Živná, Martina, Hart, Thomas C., Hart, P. Suzanne
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Nephrology 2014
Assuntos:
Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3944763/
https://ncbi.nlm.nih.gov/pubmed/24509297
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2215/CJN.06380613
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