The SR Protein SC35 Is Responsible for Aberrant Splicing of the E1α Pyruvate Dehydrogenase mRNA in a Case of Mental Retardation with Lactic Acidosis

Pyruvate dehydrogenase (PDH) complex deficiency is a major cause of lactic acidosis and Leigh's encephalomyelopathies in infancy and childhood, resulting in early death in the majority of patients. Most of the molecular defects have been localized in the coding regions of the E1α PDH gene. Rece...

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Detalhes bibliográficos
Main Authors: Gabut, Mathieu, Miné, Manuèle, Marsac, Cécile, Brivet, Michèle, Tazi, Jamal, Soret, Johann
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Microbiology 2005
Assuntos:
Gene Expression
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1069624/
https://ncbi.nlm.nih.gov/pubmed/15798212
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1128/MCB.25.8.3286-3294.2005
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