Загрузка...

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...

Полное описание

Сохранить в:
Библиографические подробности
Главные авторы: Liu, T C, Kim, H, Arizmendi, C, Kitano, A, Patel, M S
Формат: Artigo
Язык:Inglês
Опубликовано: 1993
Предметы:
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC46680/
https://ncbi.nlm.nih.gov/pubmed/8506365
Метки: Добавить метку
Нет меток, Требуется 1-ая метка записи!