Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The SPATA7 gene encodes a protein expressed in testis and retina. Mutations cause autosomal recessive Leber congenital amaurosis type 3.
| 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. |
Li Y et al. (2009) Mutation survey of known LCA genes and loci in the Saudi Arabian population. 
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| 2. |
Wang H et al. (2009) Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa.
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| 3. |
Mackay DS et al. (2011) Screening of SPATA7 in patients with Leber congenital amaurosis and severe childhood-onset retinal dystrophy reveals disease-causing mutations.
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| 4. |
Zhang X et al. (2003) A novel gene, RSD-3/HSD-3.1, encodes a meiotic-related protein expressed in rat and human testis.
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| 5. |
Orphanet article Orphanet ID 178826
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| 6. |
NCBI article NCBI 55812
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| 7. |
OMIM.ORG article Omim 609868
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| 8. |
Wikipedia article Wikipedia EN (SPATA7)
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