Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The protein is a component of a mutiprotein complex associated with chromatin. Mutations cause autosomal recessive Schimke immunoosseous dysplasia.
| 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 | 20 days | |
| Specimen type | genomic DNA |
| 1. |
Boerkoel CF et al. (2002) Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. 
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| 2. |
Taha D et al. (2004) Fatal lymphoproliferative disorder in a child with Schimke immuno-osseous dysplasia.
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| 3. |
Clewing JM et al. (2007) Schimke immuno-osseous dysplasia: a clinicopathological correlation.
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| 4. |
Clewing JM et al. (2007) Schimke immunoosseous dysplasia: suggestions of genetic diversity.
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| 5. |
Spranger J et al. (1991) Schimke immuno-osseous dysplasia: a newly recognized multisystem disease.
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| 6. |
Schimke RN et al. (1971) Chondroitin-6-sulphaturia, defective cellular immunity, and nephrotic syndrome.
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| 7. |
NCBI article NCBI 50485
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| 8. |
OMIM.ORG article Omim 606622
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| 9. |
Orphanet article Orphanet ID 119731
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| 10. |
Wikipedia article Wikipedia EN (SMARCAL1)
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