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Deficiency of the α and β subunits of pyruvate dehydrogenase in a patient with lactic acidosis and unexpected sudden death

✍ Scribed by W. Sperl; W. Ruitenbeek; C. M. C. Kerkhof; R. C. A. Sengers; J. M. F. Trijbels; J. P. Guggenbichler; A. J. M. Janssen; J. A. J. M. Bakkeren


Publisher
Springer
Year
1990
Tongue
English
Weight
777 KB
Volume
149
Category
Article
ISSN
0340-6997

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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