@article{7f65b75c754b4c8597c63d81cff9d22b,
title = "Novel MUC1 variant identified by massively parallel sequencing explains interstitial kidney disease in a large Dutch family",
keywords = "ADTKD-MUC1, autosomal dominant tubulointerstitial kidney disease, chronic kidney disease, massively parallel sequencing, MUC1",
author = "\{de Haan\}, Amber and \{van Eerde\}, \{Albertien M.\} and Mark Eijgelsheim and Patrick Rump and \{van der Zwaag\}, Bert and Eric Hennekam and Martina {\v Z}ivn{\'a} and Stanislav Kmoch and Bleyer, \{Anthony J.\} and Kendrah Kidd and Liffert Vogt and Knoers, \{Nine V.A.M.\} and \{de Borst\}, \{Martin H.\}",
note = "Funding Information: This work is cofunded by Sanofi Genzyme and the PPP Allowance made available by Health∼Holland, Top Sector Life Sciences and Health, to stimulate public-private partnerships (grants RVO/6320 and IMAGEN/LSHM20009). AMvE was supported by the Dutch Kidney Foundation ( 18OKG19 ). SK, M{\v Z}, KK, and AJB were supported by the Ministry of Health of the Czech Republic (grant NU21-07-00033 ), the Ministry of Education of the Czech Republic (grant LTAUSA19068 ), and institutional programs of Charles University in Prague (UNCE/MED/007). Several authors of this article are members of the European Reference Network for Rare Kidney Diseases project identifier 739532. Funding Information: This work is cofunded by Sanofi Genzyme and the PPP Allowance made available by Health∼Holland, Top Sector Life Sciences and Health, to stimulate public-private partnerships (grants RVO/6320 and IMAGEN/LSHM20009). AMvE was supported by the Dutch Kidney Foundation (18OKG19). SK, M{\v Z}, KK, and AJB were supported by the Ministry of Health of the Czech Republic (grant NU21-07-00033), the Ministry of Education of the Czech Republic (grant LTAUSA19068), and institutional programs of Charles University in Prague (UNCE/MED/007). Several authors of this article are members of the European Reference Network for Rare Kidney Diseases project identifier 739532.",
year = "2023",
month = may,
doi = "10.1016/j.kint.2023.02.021",
language = "English",
volume = "103",
pages = "986--989",
journal = "Kidney International",
issn = "0085-2538",
publisher = "Elsevier",
number = "5",
}