Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Leber congenital amaurosis 03

Leber congenital amaurosis 3 is an autosomal recessive disorder caused by mutations of the SPATA7 gene.

Systematic

Leber congenital amaurosis
Leber congenital amaurosis 01
Leber congenital amaurosis 02
Leber congenital amaurosis 03
SPATA7
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Leber congenital amaurosis 14
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Leber congenital amaurosis 16
Leber congenital amaurosis 17
Leber congenital amaurosis 18

References:

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 [^]
Update: April 29, 2019