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

de Haan, Amber
Author de Haan, Amber Department of Internal Medicine, Division of Nephrology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands
van Eerde, Albertien M
Author van Eerde, Albertien M Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands
Eijgelsheim, Mark
Author Eijgelsheim, Mark Department of Internal Medicine, Division of Nephrology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands
Rump, Patrick
Author Rump, Patrick Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands
van der Zwaag, Bert
Author van der Zwaag, Bert Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands
Hennekam, Eric
Author Hennekam, Eric Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands
Živná, Martina
Author Živná, Martina Research Unit of Rare Disease, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine Charles University, Prague, Czech Republic
Kmoch, Stanislav
Author Kmoch, Stanislav Research Unit of Rare Disease, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine Charles University, Prague, Czech Republic; Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA
Bleyer, Anthony J
Author Bleyer, Anthony J Research Unit of Rare Disease, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine Charles University, Prague, Czech Republic; Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA
Kidd, Kendrah
Author Kidd, Kendrah Research Unit of Rare Disease, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine Charles University, Prague, Czech Republic; Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA
Vogt, Liffert
Author Vogt, Liffert Department of Internal Medicine, Section Nephrology, Amsterdam Cardiovascular Sciences, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, the Netherlands
Knoers, Nine V A M
Author Knoers, Nine V A M Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands
de Borst, Martin H
Author de Borst, Martin H Department of Internal Medicine, Division of Nephrology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands. Electronic address: m.h.de.borst@umcg.nl

Kidney international. 2023 May ; 103 (5) : 986-989. [epub] 20230322

Kidney Int
ISSN 1523-1755 | 0085-2538
Source

Language English Country United States Media print-electronic

Document type Letter, Research Support, Non-U.S. Gov't

Persistent link https://www.medvik.cz/link/pmid37085259

PubMed 37085259
DOI 10.1016/j.kint.2023.02.021
PII: S0085-2538(23)00146-1
Knihovny.cz E-resources

Keywords
ADTKD-MUC1, MUC1, autosomal dominant tubulointerstitial kidney disease, chronic kidney disease, massively parallel sequencing,
MeSH
Nephritis, Interstitial * diagnosis genetics MeSH
Humans MeSH
Mucin-1 * genetics MeSH
Mutation MeSH
Kidney Diseases genetics MeSH
Pedigree MeSH
High-Throughput Nucleotide Sequencing MeSH
Check Tag
Humans MeSH
Publication type
Letter MeSH
Research Support, Non-U.S. Gov't MeSH
Names of Substances
MUC1 protein, human MeSH Browser
Mucin-1 * MeSH

Department of Genetics University Medical Center Groningen University of Groningen Groningen the Netherlands

Department of Genetics University Medical Center Utrecht Utrecht the Netherlands

Department of Internal Medicine Division of Nephrology University Medical Center Groningen University of Groningen Groningen the Netherlands

Department of Internal Medicine Section Nephrology Amsterdam Cardiovascular Sciences Amsterdam University Medical Center University of Amsterdam Amsterdam the Netherlands

Research Unit of Rare Disease Department of Paediatrics and Inherited Metabolic Disorders 1st Faculty of Medicine Charles University Prague Czech Republic

Research Unit of Rare Disease Department of Paediatrics and Inherited Metabolic Disorders 1st Faculty of Medicine Charles University Prague Czech Republic; Section on Nephrology Wake Forest School of Medicine Winston Salem North Carolina USA

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

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