Mutation analysis of Indian patients with urea cycle defects.

Abstract excerpt

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.

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Child
• Share to DNA Mutational Analysis
• Share to India