Spermatogenese-assoziiertes Protein 7
Das SPATA7-Gen kodiert ein Protein welches sowohl bei der Spermatogenese wie auch in der Retina exprimiert wird. Mutationen verursachen autosomal rezessive Lebersche kongenitale Amaurose Typ 3.
Gentests:
| Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
| Bearbeitungszeit |
5 Tage |
| Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
| 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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Update: 29. April 2019
