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Fig. 1 | Egyptian Journal of Medical Human Genetics

Fig. 1

From: Exome sequencing identifies a novel GUCY2D mutation in an Iranian family with Leber congenital amaurosis-1: a case report

Fig. 1

A Pedigree of the family with the p.L783P mutation. Symbols with a black dot at the center are carriers of a mutation but with no LCA-1 phenotype and filled symbol indicate an affected individual. B Electropherogram of the affected patient and her normal parents demonstrating a homozygous c.2348T > C mutation of the GUCY2D gene and heterozygous carrier state in her parents. C The amino acid changes (leucine to proline) caused by the changes in the DNA sequence

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