Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The TRIM32 gene is responsible for autosomal recessive Bardet-Biedl syndrome 11.
| Clinic | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Massive parallel sequencing |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Genomic sequencing of the entire coding region |
| Turnaround | 10 days | |
| Specimen type | genomic DNA |
| 1. |
Chiang AP et al. (2006) Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11). 
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| 2. |
Müller-Felber W et al. (1999) Phenotypic variability in two brothers with sarcotubular myopathy.
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| 3. |
OMIM.ORG article Omim 602290
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| 4. |
Orphanet article Orphanet ID 120273
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| 5. |
NCBI article NCBI 22954
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| 6. |
Wikipedia article Wikipedia EN (TRIM32)
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