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LCA5 encodes a protein that is thought to be involved in centrosomal or ciliary functions. Zusätzlich bieten wir Ihnen LCA5 Antikörper (28) und LCA5 Proteine (4) und viele weitere Produktgruppen zu diesem Protein an.
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The authors report novel biallelic LCA5 mutations, Ala212Pro and Tyr441Cys, as causing cone dystrophy.
Identification of novel LCA5 mutations in patients with Leber congenital amaurosis and retinitis pigmentosa.
This work reveals a higher frequency of LCA5 mutations in a Spanish Leber congenital amaurosis cohort than in other populations.
A novel LCA5 mutation is present in a Pakistani family with Leber congenital amaurosis and cataracts.
Macular coloboma-type LCA shows genetic heterogeneity and it is not possible to establish a phenotype-genotype correlation with LCA5 and macular coloboma.
The LCA5 gene on chromosome 6q14 encodes the ciliary protein lebercilin associated with Leber congenital amaurosis type 5.
Data report the identification of three novel LCA5 mutations (3/3 homozygous) in three families confirming the modest implication of this gene in this series (3/179; 1.7%).
This is the second report of LCA5 mutations causing Leber congenital amaurosis.
This result shows that mutation in LCA5 is likely to be a rare genetic cause in Koreans
Leber congenital amaurosis 2 patients with LCA5 mutation had evidence of retained photoreceptors mainly in the central retina; retinal remodeling was present in pericentral regions
This gene encodes a protein that is thought to be involved in centrosomal or ciliary functions. Mutations in this gene cause Leber congenital amaurosis type V. Alternatively spliced transcript variants are described.
Leber congenital amaurosis 5
, leber congenital amaurosis 5 protein
, leber congenital amaurosis 5 protein homolog