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Pyruvate dehydrogenase deficiency due to a mutation of the E1 α subunit

✍ Scribed by L. J. de Meirleir; W. Lissens; E. Vamos; I. Liebaers

Publisher
Springer
Year
1991
Tongue
English
Weight
250 KB
Volume
14
Category
Article
ISSN
0141-8955

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✍ Willy Lissens; Linda De Meirleir; Sara Seneca; Chantal Benelli; Cécile Marsac; B 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 598 KB

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