Trigenic COL4A3/COL4A4/COL4A5 Pathogenic Variants in Alport Syndrome: A Case Report
- Location
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Deutsche Nationalbibliothek Frankfurt am Main
- Extent
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Online-Ressource
- Language
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Englisch
- Bibliographic citation
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Trigenic COL4A3/COL4A4/COL4A5 Pathogenic Variants in Alport Syndrome: A Case Report ; volume:148 ; number:10 ; year:2024 ; pages:724-730 ; extent:6
Nephron ; 148, Heft 10 (2024), 724-730 (gesamt 6)
- Creator
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Rao, Dipti
Maas, Rutger
Cornelissen, Marlies
Wetzels, Jack
van Geel, Michel
- DOI
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10.1159/000538587
- URN
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urn:nbn:de:101:1-2410170024196.304414018856
- Rights
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Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
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15.08.2025, 7:38 AM CEST
Data provider
This object is provided by:
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- Rao, Dipti
- Maas, Rutger
- Cornelissen, Marlies
- Wetzels, Jack
- van Geel, Michel
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Functional and pathogenic insights into CNNM4 variants in Jalili syndrome
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Pathogenic variants of Alport syndrome and monogenic diabetes identified by exome sequencing in a family
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Novel LAGE3 Pathogenic Variants Combined with TRPC6 and NUP160 Variants in Galloway-Mowat Syndrome: A Case Report
Ascending aortic aneurysm and histopathology in Alport syndrome: a case report
Molecular testing for adult type Alport syndrome
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Genetic and molecular dynamics analysis of two variants of the COL4A5 gene causing Alport syndrome
Ventricular septal defect in a child with Alport syndrome: a case report
Functional and pathogenic insights into CNNM4 variants in Jalili syndrome
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