𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Pyruvate dehydrogenase E1α deficiency

✍ Scribed by G. K. Brown

Book ID
105312604
Publisher
Springer
Year
1992
Tongue
English
Weight
742 KB
Volume
15
Category
Article
ISSN
0141-8955

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

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