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A four-nucleotide insertion at the E1αgene in a patient with pyruvate dehydrogenase deficiency

✍ Scribed by H. Endo; S. Miyabayashi; K. Tada; K. Narisawa

Book ID
112630981
Publisher
Springer
Year
1991
Tongue
English
Weight
695 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