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Pyruvate dehydrogenase E1α deficiency in a family: Different clinical presentation in two siblings

✍ Scribed by L. De Meirleir; N. Specola; S. Seneca1; W. Lissens

Book ID
110222974
Publisher
Springer
Year
1998
Tongue
English
Weight
87 KB
Volume
21
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