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Identification of two missense mutations in a dihydrolipoamide dehydrogenase-deficient patient.

The molecular basis of dihydrolipoamide dehydrogenase (E3; dihydrolipoamide:NAD+ oxidoreductase, EC 1.8.1.4) deficiency in an E3-deficient patient was studied. Fibroblasts cultured from the patient contained only approximately 6% of the E3 activity of cells from a normal subject. Western and Norther...

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Detaylı Bibliyografya
Asıl Yazarlar: Liu, T C, Kim, H, Arizmendi, C, Kitano, A, Patel, M S
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 1993
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC46680/
https://ncbi.nlm.nih.gov/pubmed/8506365
Etiketler: Etiketle
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