Communicated by
Cloning of a defective gene encoding the pyruvate dehydrogenase E1α subunit from a patient with its deficiency
✍ Scribed by H. Endo; S. Miyabayashi; K. Hasegawa; K. Narisawa; K. Tada; Y. Kagawa; S. Ohta
- Publisher
- Springer
- Year
- 1989
- Tongue
- English
- Weight
- 337 KB
- Volume
- 12
- Category
- Article
- ISSN
- 0141-8955
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
Most of the mutations causing deficiency of the pyruvate dehydrogenase (PDH) complex are in the X-linked E,a gene. We have developed a rapid screening method for the detection of mutations in this gene using reverse transcription of total RNA, polymerase chain reaction amplification of the whole cod
## Abstract Prenatal depiction of brain dysgenesis in patients with pyruvate dehydrogenase complex (PDHc) deficiencies has been infrequently reported. As PDHc plays a critical role in the brain that obtains all of the energy from the aerobic oxidation of glucose, its deficiency is a severe inborn d