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Pyruvate dehydrogenase complex deficiency with multiple minor anomalies

✍ Scribed by HARUMI SAIJO; HAJIME TANAKA; JUNICHI ITO; TAKUMI TASAKI; KAZUHIKO CHO; AYA TOKUMITSU; SATORU TAKAHASHI; AKIE MIYAMOTO; JUNICHI OKI

Book ID
108970531
Publisher
John Wiley and Sons
Year
1997
Tongue
English
Weight
373 KB
Volume
39
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