Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Leber congenital amaurosis 3 is an autosomal recessive disorder caused by mutations of the SPATA7 gene.
| 1. |
Gu SM et al. (1997) Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy. 
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| 2. |
Li Y et al. (2009) Mutation survey of known LCA genes and loci in the Saudi Arabian population.
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| 3. |
Wang H et al. (2009) Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa.
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| 4. |
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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| 5. |
Stockton DW et al. (1998) A novel locus for Leber congenital amaurosis on chromosome 14q24.
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| 6. |
OMIM.ORG article Omim 604232
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