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A novel PYGM mutation in a Korean patient with McArdle disease: The role of nonsense-mediated mRNA decay

โœ Scribed by Eun Hee Sohn; Hyang-Sook Kim; Ae Young Lee; Tokiko Fukuda; Hideo Sugie; Dae-Seong Kim


Book ID
116793790
Publisher
Elsevier Science
Year
2008
Tongue
English
Weight
289 KB
Volume
18
Category
Article
ISSN
0960-8966

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Expression of the muscle glycogen phosph
โœ Gisela Nogales-Gadea; Juan Carlos Rubio; Israel Fernandez-Cadenas; Ines Garcia-C ๐Ÿ“‚ Article ๐Ÿ“… 2008 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 194 KB

Nearly 35% of all mutations identified in the muscle glycogen phosphorylase gene (PYGM) in patients with McArdle disease result in premature termination codons (PTCs), particularly the p.R50X mutation. The latter accounts for more than 50% of the mutated alleles in most Caucasian patient populations