Novel MUC1 variant identified by massively parallel sequencing explains interstitial kidney disease in a large Dutch family
Publication date
2023-05
Authors
de Haan, Amber
van Eerde, Albertien M
Eijgelsheim, Mark
Rump, Patrick
van der Zwaag, Bert
Hennekam, Eric A M
Živná, Martina
Kmoch, Stanislav
Bleyer, Anthony J.
Kidd, Kendrah
Editors
Advisors
Supervisors
Document Type
Letter
Metadata
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License
cc_by
Abstract
Keywords
ADTKD-MUC1, autosomal dominant tubulointerstitial kidney disease, chronic kidney disease, massively parallel sequencing, MUC1, Nephrology
Citation
de Haan, A, van Eerde, A M, Eijgelsheim, M, Rump, P, van der Zwaag, B, Hennekam, E, Živná, M, Kmoch, S, Bleyer, A J, Kidd, K, Vogt, L, Knoers, N V A M & de Borst, M H 2023, 'Novel MUC1 variant identified by massively parallel sequencing explains interstitial kidney disease in a large Dutch family', Kidney International, vol. 103, no. 5, pp. 986-989. https://doi.org/10.1016/j.kint.2023.02.021