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A strategy for disease gene identification through nonsense-mediated mRNA decay inhibition

✍ Scribed by Noensie, Erick N.; Dietz, Harry C.

Book ID
109831656
Publisher
Nature Publishing Group
Year
2001
Tongue
English
Weight
360 KB
Volume
19
Category
Article
ISSN
1087-0156

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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