Diego Pomarè Montin on Muck Rack

Diego Pomarè Montin

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PAX 2 Mutation in an Indian Family with Renal Coloboma Syndrome

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By Grazia Maria Virzì, Kumar Digvijay, Diego Pomarè Montin, Maryam Momeni Taramsari
| MDPI
5. Genetic Analysis and Discussion The genetic study conducted on both patients (II:2 and II:5) revealed the presence of four novel heterozygous variations in the PAX2 gene. Notably, both patients shared the same heterozygous PAX2 mutation, c.352 C > G, as depicted in Figure 4. This nucleotide change was localized in exon 3 of the PAX2 gene and resulted in the substitution of Leucine amino acid with Valine at position 118 of the protein (p.Leu118Val).
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