Article
Mutation analysis of the pyruvate dehydrogenase E1 alpha gene in eight patients with a pyruvate dehydrogenase complex deficiency.
Human mutation - 1 Jan 1996
Lissens W, De Meirleir L, Seneca S, Benelli C, Marsac C, Poll-The B T, Briones P, Ruitenbeek W, van Diggelen O, Chaigne D, Ramaekers V, Liebaers I
Abstract excerpt
Most of the mutations causing deficiency of the pyruvate dehydrogenase (PDH) complex are in the X-linked E1 alpha 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 coding region of the gene and single-strand conformation polymorphism (SSCP) analysis. With this method, we...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.