| People | Locations | Statistics |
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| Naji, M. |
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| Motta, Antonella |
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| Aletan, Dirar |
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| Mohamed, Tarek |
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| Ertürk, Emre |
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| Taccardi, Nicola |
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| Kononenko, Denys |
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| Petrov, R. H. | Madrid |
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| Alshaaer, Mazen | Brussels |
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| Bih, L. |
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| Casati, R. |
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| Muller, Hermance |
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| Kočí, Jan | Prague |
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| Šuljagić, Marija |
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| Kalteremidou, Kalliopi-Artemi | Brussels |
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| Azam, Siraj |
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| Ospanova, Alyiya |
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| Blanpain, Bart |
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| Ali, M. A. |
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| Popa, V. |
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| Rančić, M. |
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| Ollier, Nadège |
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| Azevedo, Nuno Monteiro |
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| Landes, Michael |
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| Rignanese, Gian-Marco |
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Sundaresan, P.
in Cooperation with on an Cooperation-Score of 37%
Topics
Publications (4/4 displayed)
- 2015Evaluation of genetic polymorphisms in clusterin and tumor necrosis factor-alpha genes in South Indian individuals with pseudoexfoliation syndrome.citations
- 2007Genetic variations in the hotspot region of RS1 gene in Indian patients with juvenile X-linked retinoschisis.
- 2003A novel PAX6 gene mutation in an Indian aniridia patient.
- 2003Evaluation and understanding of myocilin mutations in Indian primary open angle glaucoma patients.
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article
A novel PAX6 gene mutation in an Indian aniridia patient.
Abstract
A mutation in the PAX6 gene is thought to be the genetic cause of aniridia. Here we search for PAX6 gene mutations in Indian aniridia patients.We amplified the coding exons of the PAX6 gene from the genomic DNA of 15 unrelated aniridia patients using polymerase chain reaction technology. We then performed single-strand conformation polymorphism analysis and heteroduplex analysis to search for sequence variants.Sequencing of shifted bands in two patients revealed PAX6 gene mutations. One of these was a novel mutation, 1180insA, located in exon 10 at the start of the PST domain. The other mutation, 1080C->T (R240X), located in exon 9 within the homeodomain, and is another example of the most commonly reported PAX6 mutation.Although PAX6 gene mutations and polymorphisms have been reported from various ethnic groups, we report for the first time the identification of PAX6 gene mutations in Indian aniridia patients.