uniparental disomy

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lpin1 deficiency with severe recurrent rhabdomyolysis and persistent elevation of creatine kinase levels due to chromosome 2 maternal isodisomy

;I.A. Meijer;F. Sasarman;C. Maftei;E. Rossignol;M. Vanasse;P. Major;G.A. Mitchell;C. Brunel-Guitton

2015 advances in skin & wound care DOI: 10.1016/j.ymgmr.2015... 222 views

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rhabdomyolysis creatine kinase