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Methylmalonic Acidemia with Novel MUT Gene Mutations

Inusha Panigrahi1, Savita Bhunwal1, Harish Varma1

  • 1Department of Pediatrics, Advanced Pediatric Centre, PGIMER, Chandigarh, India.

Case Reports in Genetics
|November 22, 2017
PubMed
Summary

Methylmalonic acidemia (MMA) is a rare metabolic disorder. Next-generation sequencing (NGS) combined with Sanger sequencing identified novel gene variants, aiding in the diagnosis and understanding of MMA.

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