✦ LIBER ✦

A Nonsense Mutation in the Exon 2 of the 3-Hydroxy- 3-methylglutaryl Coenzyme A Lyase (HL) Gene Producing Three Mature mRNAs Is the Main Cause of 3-Hydroxy-3-methylglutaric Aciduria in European Mediterranean Patients

✍ Scribed by César H. Casale; Núria Casals; Juan Pié; Núria Zapater; Celia Pérez-Cerdá; Begoña Merinero; Mercedes Martı&#x0301;nez-Pardo; Juan José Garcı&#x0301;a-Peñas; José M. Garcı&#x0301;a-Gonzalez; Rosa Lama; Bwee-Tien Poll-The; Jan A.M. Smeitink; Ronald J.A. Wanders; Magdalena Ugarte; Fausto G. Hegardt

Book ID: 115566815
Publisher: Elsevier Science
Year: 1998
Tongue: English
Weight: 447 KB
Volume: 349
Category: Article
ISSN: 0003-9861
DOI: 10.1006/abbi.1997.0456

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Two Missense Point Mutations in Differen

Two Missense Point Mutations in Different Alleles in the 3-Hydroxy-3-methylglutaryl Coenzyme A Lyase Gene Produce 3-Hydroxy-3-methylglutaric Aciduria in a French Patient

✍ Núria Zapater; Juan Pié; Jorge Lloberas; Marie-Odile Rolland; Bernard Leroux; Mi 📂 Article 📅 1998 🏛 Elsevier Science 🌐 English ⚖ 480 KB

3-Hydroxy-3-methylglutaric Aciduria in a

3-Hydroxy-3-methylglutaric Aciduria in an Italian Patient Is Caused by a New Nonsense Mutation in the HMGCL Gene

✍ S. Funghini; E. Pasquini; M. Cappellini; M.A. Donati; A. Morrone; C. Fonda; E. Z 📂 Article 📅 2001 🏛 Elsevier Science 🌐 English ⚖ 736 KB