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.

导出 LinkOut

翻译打印收藏纠错

作者： Ana,Pinheiro ^[1] ; Maria João,Silva ^[2] ; Hana,Pavlu-Pereira ^[1] ; Cristina,Florindo ^[1] ; Madalena,Barroso ^[1] ; Bárbara,Marques ^[3] ; Hildeberto,Correia ^[3] ; Anabela,Oliveira ^[4] ; Ana,Gaspar ^[5] ; Isabel,Tavares de Almeida ^[2] ; Isabel,Rivera ^[6]

作者单位： Metabolism & Genetics Group, Research Institute for Medicines (iMed.ULisboa), Faculty of Pharmacy, Universidade de Lisboa, Portugal. ^[1] Metabolism & Genetics Group, Research Institute for Medicines (iMed.ULisboa), Faculty of Pharmacy, Universidade de Lisboa, Portugal; Department of Biochemistry and Human Biology, Faculty of Pharmacy, Universidade de Lisboa, Portugal. ^[2] Department of Human Genetics, Molecular Cytogenetic Unit, National Institute of Health Doctor Ricardo Jorge, I.P., Lisbon, Portugal. ^[3] Department of Medicine, Hospital Santa Maria, Lisbon, Portugal. ^[4] Department of Pediatrics, Hospital Santa Maria, Lisbon, Portugal. ^[5] Metabolism & Genetics Group, Research Institute for Medicines (iMed.ULisboa), Faculty of Pharmacy, Universidade de Lisboa, Portugal; Department of Biochemistry and Human Biology, Faculty of Pharmacy, Universidade de Lisboa, Portugal. Electronic address: iarivera@ff.ulisboa.pt. ^[6]

关键词 DNA methylation Gene regulation Pyruvate dehydrogenase complex deficiency Testis- specific expression