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Mutation of the 97-197-197-1subunit of the pyruvate dehydrogenase complex, in relation to heterogeneity

✍ Scribed by A. Kitano; F. Endo; I. Matsuda; S. Miyabayashi; H-H. M. Dahl


Publisher
Springer
Year
1989
Tongue
English
Weight
926 KB
Volume
12
Category
Article
ISSN
0141-8955

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Mutation analysis of the pyruvate dehydr
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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