Novel mutation in an Indian patient with methylmalonic acidemia, cbIA type

Katta Mohan Girisha, Aroor Shrikiran, Abdul Mueed Bidchol, Osamu Sakamoto, Puthiya Mundyat Gopinath, Kapaettu Satyamoorthy

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    3 Citations (Scopus)

    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.

    Original languageEnglish
    Pages (from-to)346-348
    Number of pages3
    JournalIndian Journal of Human Genetics
    Volume18
    Issue number3
    DOIs
    Publication statusPublished - 09-2012

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    All Science Journal Classification (ASJC) codes

    • Genetics
    • Genetics(clinical)

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