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Genetic profile and mutation spectrum of Leber congenital amaurosis in a larger Indian cohort using high throughput targeted re-sequencing.

Clinical genetics - 1 Feb 2018

Srikrupa N N, Srilekha S, Sen P, Arokiasamy T, Meenakshi S, Bhende M, Kapur S, Soumittra N

Abstract excerpt

To provide a comprehensive data on the prevalence of mutations in Leber congenital amaurosis (LCA) candidate genes from a larger Indian cohort. Ninety-two unrelated subjects were recruited after complete ophthalmic examination and informed consent. Targeted re-sequencing of 20 candidate genes was performed using Agilent HaloPlex target enrichment assay and sequenced on Illumina MiSeq platform. The data were...

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PMID: 29068479
DOI: 10.1111/cge.13159

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