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Immunochemical evidence of pyruvate dehydrogenase (E1) deficiency

✍ Scribed by A. Kitano; I. Akaboshi; F. Endo; I. Matsuda; Y. Okano; Y. Hase; Y. Nagao; S. Kamoshita; S. Miyabayashi; K. Narisawa

Book ID
105313096
Publisher
Springer
Year
1988
Tongue
English
Weight
286 KB
Volume
11
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