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Novel mutation (R263X) of the E1α subunit in pyruvate dehydrogenase complex deficiency

✍ Scribed by Satoshi Sato; Hiroaki Ioi; Yasuyo Kashiwagi; Hisashi Kawashima; Tasuku Miyajima; Etsuo Naito; Akinori Hoshika

Book ID
108972976
Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
283 KB
Volume
52
Category
Article
ISSN
1328-8067

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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