Communicated by
Characterization of the mutations in three patients with pyruvate dehydrogenase E1α deficiency
✍ Scribed by L. L. Hansen; G. K. Brown; D. M. Kirby; H. -H. M. Dahl
- Publisher
- Springer
- Year
- 1991
- Tongue
- English
- Weight
- 924 KB
- Volume
- 14
- Category
- Article
- ISSN
- 0141-8955
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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
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