Showing results for: oczy   Total: 20

  1. Fraser syndrome

    Analysis of the most common mutation in exon 6 of the FREM2 gene

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  2. Autosomal recessive retinitis pigmentosa (ARRP)

    Analysis consists of 585 mutations in 18 genes studied with use of microarray technology

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  3. Autosomal dominant retinitis pigmentosa (ADRP)

    Analysis consists of 370 mutations in 15 genes studied with use of microarray technology

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  4. Best macular dystrophy (BMD)

    Analysis consists of 138 mutations and polymorphisms of the BEST1 (VMD2) gene studied with u…

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  5. Stargardt macular degeneration

    Analysis consists of 519 mutations in the ABCR (ABCA4) gene tested with microarray technology

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  6. Corneal dystrophies

    Analysis consists of 325 mutations in 13 genes and is performed by means of microarray technology

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  7. Leber hereditary optic neuropathy (LHON)

    Analysis comprise testing of 3 mutations in the mtDNA: 3460GA, 11778GA, 14484TC.

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  8. Macular dystrophy

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  9. Age-related macular degeneration (ARMD)

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  10. Axenfeld-Rieger Syndrome

    Analysis of the entire coding sequence of PITX2 gene

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