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Four novelPDHA1mutations in pyruvate dehydrogenase deficiency

✍ Scribed by Ostergaard, E.; Moller, L. Birk; Kalkanoglu-Sivri, H. Serap; Dursun, A.; Kibaek, M.; Thelle, T.; Christensen, E.; Duno, M.; Wibrand, F.


Book ID
120515037
Publisher
Springer
Year
2009
Tongue
English
Weight
270 KB
Volume
32
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