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

Amber de Haan, Albertien M. van Eerde, Mark Eijgelsheim, Patrick Rump, Bert van der Zwaag, Eric Hennekam, Martina Živná, Stanislav Kmoch, Anthony J. Bleyer, Kendrah Kidd, Liffert Vogt, Nine V.A.M. Knoers, Martin H. de Borst*

*Corresponding author for this work

Research output: Contribution to journalLetterAcademicpeer-review

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Original languageEnglish
Pages (from-to)986-989
Number of pages4
JournalKidney International
Volume103
Issue number5
DOIs
Publication statusPublished - May 2023

Keywords

  • ADTKD-MUC1
  • autosomal dominant tubulointerstitial kidney disease
  • chronic kidney disease
  • massively parallel sequencing
  • MUC1

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