𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Cerebral palsy and pyruvate dehydrogenase deficiency: identification of two new mutations in the E1α gene

✍ Scribed by Lissens, W.; Vreken, P.; Barth, P. G.; Wijburg, F. A.; Ruitenbeek, W.; Wanders, R. J. A.; Seneca, S.; Liebaers, I.; De Meirleir, L.


Book ID
113043057
Publisher
Springer
Year
1999
Tongue
English
Weight
91 KB
Volume
158
Category
Article
ISSN
0340-6997

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Mutations and polymorphisms in the pyruv
✍ H.-H. M. Dahl; G. K. Brown; R. M. Brown; L. L. Hansen; D. S. Kerr; I. D. Wexler; 📂 Article 📅 1992 🏛 John Wiley and Sons 🌐 English ⚖ 456 KB

C a d M5G f X8 (K.C., N.M., B.H.R.) Communicated by Richard G. H. Cotton We present an update on mutations and polymorphisms in the human X chromosome located pyruvate dehydrogenase Ela gene. A total of 20 different mutations are tabulated. The mutations include deletions, insertions, and point muta

Mutation analysis of the pyruvate dehydr
✍ 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