Founder p.Arg 446* mutation in the PDHX gene explains over half of cases with congenital lactic acidosis in Roma children - Ivan S. Ivanov, Dimitar N. Azmanov, Mariya B. Ivanova, Teodora Chamova, Ilyana H. Pacheva, Margarita V. Panova, Sharon Song, Bharti Morar, Ralitsa V. Yordanova, Fani K. Galabova, Iglika G. Sotkova, Alexandar J. Linev, Stoyan Bitchev, Anne-Marie J. Shearwood, Dalia Kancheva - Dissemin

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Elsevier, Molecular Genetics and Metabolism, 1-2(113), p. 76-83, 2014

DOI: 10.1016/j.ymgme.2014.07.017

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Founder p.Arg 446* mutation in the PDHX gene explains over half of cases with congenital lactic acidosis in Roma children

Journal article published in 2014 by Ivan S. Ivanov, Dimitar N. Azmanov, Mariya B. Ivanova, Teodora Chamova, Ilyana H. Pacheva, Margarita V. Panova, Sharon Song, Bharti Morar, Ralitsa V. Yordanova, Fani K. Galabova, Iglika G. Sotkova, Alexandar J. Linev, Stoyan Bitchev, Anne-Marie J. Shearwood, Dalia Kancheva

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