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
Titel:
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
Auteur:
Pinheiro, Ana Silva, Maria João Pavlu-Pereira, Hana Florindo, Cristina Barroso, Madalena Marques, Bárbara Correia, Hildeberto Oliveira, Anabela Gaspar, Ana Tavares de Almeida, Isabel Rivera, Isabel