Concepedia

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

César H. Casale, Núria Casals, Juan Pié, Núria Zapater, Celia Pérez‐Cerdá, B. Merinero, Mercedes Martínez‐Pardo, Juan José Garcı́a-Peñas, José M. Garcı́a-Gonzalez, Rosa Lama,

Archives of Biochemistry and Biophysics · 1998 · 29 citations · 27 references

DOI

Concepts

References

27

Molecular cloning: A laboratory manual

Prescott L. Deininger · Analytical Biochemistry · 1990 · 86.2K citations

, , +11

The Skipping of Constitutive Exons in Vivo Induced by Nonsense Mutations

Harry C. Dietz, David Valle, Clair A. Francomano et al. · Science · 1993 · 432 citations

, , +16

Nonsense mutations in the dihydrofolate reductase gene affect RNA processing.

Gail Urlaub, Pamela J. Mitchell, Carlos J. Ciudad et al. · Molecular and Cellular Biology · 1989 · 349 citations · Full text

, , +12

Nonsense mutations in the human beta-globin gene affect mRNA metabolism.

Susan J. Baserga, E J Benz · Proceedings of the National Academy of Sciences · 1988 · 231 citations · Full text

, , +11

Nonsense but not missense mutations can decrease the abundance of nuclear mRNA for the mouse major urinary protein, while both types of mutations can facilitate exon skipping.

Phillip Belgrader, Lynne E. Maquat · Molecular and Cellular Biology · 1994 · 128 citations · Full text

, , +16