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Development of subdural effusions in association with pyruvate dehydrogenase deficiency

✍ Scribed by Maria Raissaki; Olga Grafakou; Andreas Giannopoulos; Martha Spilioti; Richard Rodenburg; Jan Smeitink; Athanasios Evangeliou; Nicholas Gourtsoyiannis


Book ID
113030811
Publisher
Springer
Year
2005
Tongue
English
Weight
140 KB
Volume
15
Category
Article
ISSN
0938-7994

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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