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

Human pyruvate dehydrogenase complex (PDC) catalyzes a key step in the generation of cellular energy and is composed by three catalytic elements (E1, E2, E3), one structural subunit (E3-binding protein), and specific regulatory elements, phosphatases and kinases (PDKs, PDPs). The E1α subunit exists...

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Detalhes bibliográficos
Autor principal: Pinheiro, Ana (author)
Outros Autores: Silva, Maria João (author), Pavlu-Pereira, Hana (author), Florindo, Cristina (author), Barroso, Madalena (author), Marques, Bárbara (author), Correia, Hildeberto (author), Oliveira, Anabela (author), Gaspar, Ana (author), Tavares de Almeida, Isabel (author), Rivera, Isabel (author)
Formato: article
Idioma:eng
Publicado em: 2020
Assuntos:
DNA Methylation
Gene Regulation
Pyruvate Dehydrogenase Complex Deficiency
Testis- specific Expression
Doenças Genéticas
Genética Humana
Texto completo:http://hdl.handle.net/10400.18/3869
País:Portugal
Oai:oai:repositorio.insa.pt:10400.18/3869

Texto Completo

http://hdl.handle.net/10400.18/3869

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