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Complex genetic findings in a female patient with pyruvate dehydrogenase complex deficiency: Null mutations in the PDHX gene associated with unusual expression of the testis-specific PDHA2 gene in her somatic cells.
Pinheiro A, Silva MJ, Pavlu-Pereira H, Florindo C, Barroso M, Marques B, Correia H, Oliveira A, Gaspar A, Tavares de Almeida I, Rivera I. Pinheiro A, et al. Gene. 2016 Oct 15;591(2):417-24. doi: 10.1016/j.gene.2016.06.041. Epub 2016 Jun 22. Gene. 2016. PMID: 27343776
Leishmania braziliensis causing human disease in Northeast Brazil presents loci with genotypes in long-term equilibrium.
Silva JA, Pinheiro AI, Dourado ML, Medina L, Queiroz A, Guimarães LH, Lessa MM, Lago EL, Machado PRL, Wilson ME, Carvalho EM, Schriefer A. Silva JA, et al. Among authors: pinheiro ai. PLoS Negl Trop Dis. 2022 Jun 15;16(6):e0010390. doi: 10.1371/journal.pntd.0010390. eCollection 2022 Jun. PLoS Negl Trop Dis. 2022. PMID: 35704664 Free PMC article.
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