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

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ijhg2012v18n3p346.pdf (634.41 KB)
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2012-09
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Abstract
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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Genetics, methylmalonic acidemia, mutation
Citation
Girisha Katta Mohan, Shrikiran Aroor, Bidchol Abdul Mueed, Sakamoto Osamu, Gopinath Puthiya Mundyat, Satyamoorthy Kapaettu. Novel mutation in an Indian patient with Methylmalonic Acidemia, cblA type. Indian Journal of Human Genetics. 2012 Sept; 18(3): 346-348.
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https://imsear.searo.who.int/handle/123456789/145859
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Indian Journal of Human Genetics