𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Heterogeneous Expression of Protein and mRNA in Pyruvate Dehydrogenase Deficiency

✍ Scribed by Isaiah D. Wexler, Douglas S. Kerr, Lap Ho, Marilyn M. Lusk, Ronald A. Pepin, Ali A. Javed, John E. Mole, Barry W. Jesse, Thomas J. Thekkumkara, Gabriel Pons and Mulchand S. Patel

Book ID
123635844
Publisher
National Academy of Sciences
Year
1988
Tongue
English
Weight
1010 KB
Volume
85
Category
Article
ISSN
0027-8424

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

Mutation analysis of the pyruvate dehydr
Mutation analysis of the pyruvate dehydrogenase E1Ξ± gene in eight patients with a pyruvate dehydrogenase complex deficiency
✍ Willy Lissens; Linda De Meirleir; Sara Seneca; Chantal Benelli; CΓ©cile Marsac; B πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 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