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Pyruvate dehydrogenase deficiency as a result of splice-site mutations in the PDX1 gene

✍ Scribed by Runu Dey; Bernard Aral; Marc Abitbol; Cecile Marsac


Book ID
117735397
Publisher
Elsevier Science
Year
2002
Tongue
English
Weight
208 KB
Volume
76
Category
Article
ISSN
1096-7192

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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