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
| Autor: | Casale, César H., Casals, Núria, Pié, Juan, Zapater, Núria, Pérez-Cerdá, Celia, Merinero, Begoña, Martı́nez-Pardo, Mercedes, Garcı́a-Peñas, Juan José, Garcı́a-Gonzalez, José M., Lama, Rosa, Poll-The, Bwee-Tien, Smeitink, Jan A.M., Wanders, Ronald J.A., Ugarte, Magdalena, Hegardt, Fausto G. |
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| Zdroj: | In Archives of Biochemistry and Biophysics 1 January 1998 349(1):129-137 |
| Databáze: | ScienceDirect |
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