Mutation analysis of the pyruvate dehydr
β
Willy Lissens; Linda De Meirleir; Sara Seneca; Chantal Benelli; CΓ©cile Marsac; B
π
Article
π
1996
π
John Wiley and Sons
π
English
β 598 KB
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