Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The FGFRL1 gene encodes a protein that acts in connection with FGF receptors. It is predominantly expressed in the kidney. Mutations in that gene are common and in particular if located in the intracellular tail without clinical relevance.
| Research | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Massive parallel sequencing |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| Research | Method | Genomic sequencing of the entire coding region |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| 1. |
Wiedemann M et al. (2000) Characterization of a novel protein (FGFRL1) from human cartilage related to FGF receptors. 
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| 2. |
Steinberg F et al. (2010) Rapid fusion and syncytium formation of heterologous cells upon expression of the FGFRL1 receptor.
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| 3. |
NCBI article NCBI 53834
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| 4. |
OMIM.ORG article Omim 605830
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| 5. |
Wikipedia article Wikipedia EN (Fibroblast_growth_factor_receptor-like_1)
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