Pyruvate dehydrogenase complex deficiency: Biochemical and immunoblot analysis of cultured skin fibroblasts

Mutation analysis of the pyruvate dehydr

Mutation analysis of the pyruvate dehydrogenase E1α gene in eight patients with a pyruvate dehydrogenase complex deficiency

✍ Willy Lissens; Linda De Meirleir; Sara Seneca; Chantal Benelli; Cécile Marsac; B 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 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