Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The DNASE1L3 gene encodes a deoxyribonuclease that in particular in apoptotic cells removes DNA. Mutations cause autosomal recessive susceptibility to lupus erythematosus type 16.
| Clinic | 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. |
Zeng Z et al. (1997) Cloning and characterization of a novel human DNase. 
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| 2. |
Rodriguez AM et al. (1997) Identification, localization, and expression of two novel human genes similar to deoxyribonuclease I.
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| 3. |
Al-Mayouf SM et al. (2011) Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus.
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