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


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.

SUBMITTER: Girisha KM 

PROVIDER: S-EPMC3656526 | biostudies-literature | 2012 Sep

REPOSITORIES: biostudies-literature

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

Girisha Katta Mohan KM   Shrikiran Aroor A   Bidchol Abdul Mueed AM   Sakamoto Osamu O   Gopinath Puthiya Mundyat PM   Satyamoorthy Kapaettu K  

Indian journal of human genetics 20120901 3


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

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