Indian Journal of Human Genetics
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CASE REPORT
Year : 2012  |  Volume : 18  |  Issue : 3  |  Page : 346-348

Novel mutation in an Indian patient with Methylmalonic Acidemia, cblA type


1 Department of Pediatrics, Kasturba Medical College, Manipal University, Manipal, India
2 Tohoku University School of Medicine, Japan
3 Manipal Life Sciences Center, Manipal University, Manipal, Karnataka, India

Correspondence Address:
Katta Mohan Girisha
Division of Medical Genetics, Department of Pediatrics, Kasturba Medical College, Manipal University, Manipal - 576 104, Karnataka
India
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Source of Support: We thank Technology Information, Forecasting and Assessment Council (TIFAC).Centre of Relevance and Excellence (CORE), Department of Science and Technology, Government of India and Vision Group on Science and Technology (VGST), Department of Information Technology, Biotechnology and Science and Technology, Government of Karnataka for financial support,, Conflict of Interest: None


DOI: 10.4103/0971-6866.108025

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We report on a girl with methylmalonic acidemia, cblA type with a novel homozygous mutation and describe the clinical phenotype and response to therapy.


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