Novel MUC1 variant identified by massively parallel sequencing explains interstitial kidney disease in a large Dutch family

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Novel MUC1 variant identified by massively parallel sequencing explains interstitial kidney disease in a large Dutch family
 
de Haan, Amber; van Eerde, Albertien M.; Eijgelsheim, Mark; Rump, Patrick; van der Zwaag, Bert; Hennekam, Eric; Živná, Martina; Kmoch, Stanislav; Bleyer, Anthony J.; Kidd, Kendrah; Vogt, Liffert; Knoers, Nine V.A.M.; de Borst, Martin H.
(2023) Kidney International, volume 103, issue 5, pp. 986 - 989
(Letter)
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Keywords: ADTKD-MUC1, autosomal dominant tubulointerstitial kidney disease, chronic kidney disease, massively parallel sequencing, MUC1, Nephrology
DOI: https://doi.org/10.1016/j.kint.2023.02.021
ISSN: 0085-2538
Publisher: Nature Publishing Group
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, MŽ, 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, MŽ, 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.
(Peer reviewed)