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Leber congenital amaurosis 04

Leber congenital amaurosis 4 is an autosomal recessive disorder caused by mutations of the AIPL1 gene.

Systematic

Leber congenital amaurosis
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Leber congenital amaurosis 04
AIPL1
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References:

1.

Gu SM et al. (1997) Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy.

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2.

Perrault I et al. (1996) Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis.

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3.

Tan MH et al. (2009) Gene therapy for retinitis pigmentosa and Leber congenital amaurosis caused by defects in AIPL1: effective rescue of mouse models of partial and complete Aipl1 deficiency using AAV2/2 and AAV2/8 vectors.

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4.

Sohocki MM et al. (2000) Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis.

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5.

Sohocki MM et al. (2000) Prevalence of AIPL1 mutations in inherited retinal degenerative disease.

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6.

Kirschman LT et al. (2010) The Leber congenital amaurosis protein, AIPL1, is needed for the viability and functioning of cone photoreceptor cells.

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7.

Aboshiha J et al. (2015) Preserved outer retina in AIPL1 Leber's congenital amaurosis: implications for gene therapy.

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8.

Hameed A et al. (2000) A novel locus for Leber congenital amaurosis (LCA4) with anterior keratoconus mapping to chromosome 17p13.

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9.

Booij JC et al. (2005) Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa.

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10.

OMIM.ORG article

Omim 604393 external link
Update: Aug. 14, 2020
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