Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings

Tobias B. Haack, Boris Rolinski, Birgit Haberberger, Franz Zimmermann, Jessica Schum, Valentina Strecker, Elisabeth Graf, Uwe Athing, Thomas Hoppen, Ilka Wittig, Wolfgang Sperl, Peter Freisinger, Johannes A. Mayr, Tim M. Strom, Thomas Meitinger, Holger Prokisch

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Biochemistry, Genetics and Molecular Biology