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

doi:10.1016/j.kint.2023.02.021

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 journal › Article › Academic › peer-review

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Original language	English
Pages (from-to)	986-989
Number of pages	4
Journal	Kidney International
Volume	103
Issue number	5
DOIs	https://doi.org/10.1016/j.kint.2023.02.021
Publication status	Published - May-2023

Keywords

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

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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, 103(5), 986-989. https://doi.org/10.1016/j.kint.2023.02.021

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

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}",

year = "2023",

month = may,

doi = "10.1016/j.kint.2023.02.021",

language = "English",

volume = "103",

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journal = "Kidney International",

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de Haan, A, van Eerde, AM, Eijgelsheim, M, Rump, P, van der Zwaag, B, Hennekam, E, Živná, M, Kmoch, S, Bleyer, AJ, Kidd, K, Vogt, L, Knoers, NVAM & de Borst, MH 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

TY - JOUR

T1 - Novel MUC1 variant identified by massively parallel sequencing explains interstitial kidney disease in a large Dutch family

AU - de Haan, Amber

AU - van Eerde, Albertien M

AU - Eijgelsheim, Mark

AU - Rump, Patrick

AU - van der Zwaag, Bert

AU - Hennekam, Eric

AU - Živná, Martina

AU - Kmoch, Stanislav

AU - Bleyer, Anthony J

AU - Kidd, Kendrah

AU - Vogt, Liffert

AU - Knoers, Nine V A M

AU - de Borst, Martin H

PY - 2023/5

Y1 - 2023/5

KW - Humans

KW - High-Throughput Nucleotide Sequencing

KW - Kidney Diseases/genetics

KW - Mucin-1/genetics

KW - Mutation

KW - Nephritis, Interstitial/diagnosis

KW - Pedigree

U2 - 10.1016/j.kint.2023.02.021

DO - 10.1016/j.kint.2023.02.021

M3 - Article

C2 - 37085259

SN - 0085-2538

VL - 103

SP - 986

EP - 989

JO - Kidney International

JF - Kidney International

IS - 5

ER -