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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Mutation analysis of Indian patients with urea cycle defects
Neerja Gupta1, Madhulika Kabra, J Häberle
1Genetic Unit, Department of Pediatrics, AIIMS, New Delhi 110 029, India.
Abstract:
Molecular testing for a specific metabolic disorder remains the gold standard due to its high specificity and sensitivity and possibility of accurate prenatal diagnosis. We report four cases of urea cycle defect where mutational analysis of the involved genes was performed and subsequently, prenatal diagnosis could be offered to one of the family.
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