Defective gene in lactic acidosis: abnormal pyruvate dehydrogenase E1 alpha-subunit caused by a frame shift.

A patient with lactic acidosis showed a lowered pyruvate dehydrogenase E1 activity and fatigued on slight exercise. The cDNA encoding the pyruvate dehydrogenase E1 alpha-subunit from his lymphocytes, transformed by infection of Epstein-Barr virus, was cloned and sequenced. The nucleotide sequence de...

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Autors principals: Endo, H, Hasegawa, K, Narisawa, K, Tada, K, Kagawa, Y, Ohta, S
Format: Artigo
Idioma:Inglês
Publicat: 1989
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1715432/
https://ncbi.nlm.nih.gov/pubmed/2537010
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