RESEARCHDIAGNOSTICSTRANSLATIONOUTREACH
 
Paper Detail
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Azevedo L, Vilarinho L, Teles EL, Amorim A
Ornithine transcarbamylase deficiency: a novel splice site mutation in a family with meiotic recombination and a new useful SNP for diagnosis. Molecular genetics and metabolism 76: 68-70, 2002.  [Article] 
 PMID: 12175783.
 
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@ 2014 Ipatimup Institute of Molecular Pathology and Immunology of the University of Porto
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