Article
Analysis of nonsense-mediated mRNA decay in mutant alleles identified in Spanish Gaucher disease patients.
Blood cells, molecules & diseases - 1 Jan 2000
Montfort Magda, Chabás Amparo, Vilageliu Lluïsa, Grinberg Daniel
Abstract excerpt
Most of the mutations described in the GBA gene as responsible for Gaucher disease are missense mutations. Nevertheless, other alterations, including nonsense and frameshift mutations, have been reported. These mutations generate premature termination codons (PTC) that could trigger the degradation of mRNA through a mechanism known as nonsense-mediated decay (NMD). It has been established that NMD requires the...
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