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LCA5
Gene Information from Publications |
| Publication Link |
Summary of findings |
| 18000884 |
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%). |
| 17546029 |
The LCA5 gene on chromosome 6q14 encodes the ciliary protein lebercilin associated with Leber congenital amaurosis type 5. |
| 16082399 |
Macular coloboma-type LCA shows genetic heterogeneity and it is not possible to establish a phenotype-genotype correlation with LCA5 and macular coloboma. |
LCA5 results (if any) from reagent suppliers |
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