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 journalArticleAcademicpeer-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

  • Humans
  • High-Throughput Nucleotide Sequencing
  • Kidney Diseases/genetics
  • Mucin-1/genetics
  • Mutation
  • Nephritis, Interstitial/diagnosis
  • Pedigree

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