Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Leber congenital amaurosis 15

Leber congenital amaurosis 15 is an autosomal recessive disorder caused by mutations of the TULP1 gene.

Systematic

Leber congenital amaurosis
Leber congenital amaurosis 01
Leber congenital amaurosis 02
Leber congenital amaurosis 03
Leber congenital amaurosis 04
Leber congenital amaurosis 05
Leber congenital amaurosis 06
Leber congenital amaurosis 07
Leber congenital amaurosis 08
Leber congenital amaurosis 09
Leber congenital amaurosis 10
Leber congenital amaurosis 11
Leber congenital amaurosis 12
Leber congenital amaurosis 13
Leber congenital amaurosis 14
Leber congenital amaurosis 15
TULP1
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.

Hanein S et. al. (2004) Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis.

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3.

Mataftsi A et. al. (2007) Novel TULP1 mutation causing leber congenital amaurosis or early onset retinal degeneration.

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4.

den Hollander AI et. al. (2007) Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays.

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Update: Sept. 26, 2018