Browsing Human Genetics and Molecular Medicine-Research Publications by Subject "Onset Age"
Now showing items 1-2 of 2
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A novel 7 bp deletion in PRPF31 associated with autosomal dominant retinitis pigmentosa with incomplete penetrance in an Indian family
(2012)To localize and identify the gene linked with non-syndromic autosomal dominant retinitis pigmentosa (adRP) with high but not complete penetrance in an Indian family. A detailed family history and clinical data were recorded. ... -
Oxidative stress in the development of genetic generalised epilepsy: An observational study in southern Indian population
(Journal of Clinical and Diagnostic Research, 2017)Introduction: Oxidative stress resulting from excessive generation of Reactive Oxygen Species (ROS) plays a significant role in neurodegeneration associated with seizures/epilepsy. Aim: To evaluate oxidative stress markers ...