# Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/mutations-in-a-novel-gene-nphp3-cause-adolescent-nephronophthisis-tapeto-retinal/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Heike Olbrich,Manfred Fliegauf,Julia Hoefele,Andreas Kispert,Edgar A. Otto,Andreas Volz,Matthias T. F. Wolf,Gürsel Sasmaz,Ute Trauer,Richard Reinhardt,Ralf Sudbrak,Corinne Antignac,Norbert Gretz,Gerd Walz,Bernhard Schermer,Thomas Benzing,Friedhelm Hildebrandt,Heymut Omran |
| Citations | 373 |
| DOI | 10.1038/ng1216 |
| Fields | Biochemistry, Genetics and Molecular Biology |
| Open Access | false |
| OA Status | closed |
| OpenAlex ID | https://openalex.org/W1996445467 |
| PMID | 12872122 |
| Type | article |
| Year | 2003 |

## Paper authors

- [Julia Hoefele](https://scholariq.org/researchers/julia-hoefele/)
- [Gerd Walz](https://scholariq.org/researchers/gerd-walz/)
- [Thomas Benzing](https://scholariq.org/researchers/thomas-benzing/)
- [Corinne Antignac](https://scholariq.org/researchers/corinne-antignac/)

## Paper primary topic

- [Genetic and Kidney Cyst Diseases](https://scholariq.org/topics/genetic-and-kidney-cyst-diseases/)

## Paper topics

- [Genetic and Kidney Cyst Diseases](https://scholariq.org/topics/genetic-and-kidney-cyst-diseases/)
- [Renal and related cancers](https://scholariq.org/topics/renal-and-related-cancers/)
- [Protist diversity and phylogeny](https://scholariq.org/topics/protist-diversity-and-phylogeny/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.