RESEARCHDIAGNOSTICSTRANSLATIONOUTREACH
 
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Quental S, Gusmão A, Rodríguez-Pombo P, Ugarte M, Vilarinho L, Amorim A, Prata MJ
Revisiting MSUD in Portuguese Gypsies: evidence for a founder mutation and for a mutational hotspot within the BCKDHA gene. Annals of human genetics 73: 298-303, 2009.  [Article] 
 doi: 10.1111/j.1469-1809.2009.00518.x PMID: 19456321.
 
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@ 2014 Ipatimup Institute of Molecular Pathology and Immunology of the University of Porto
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