Article
GALNS gene expression profiling in Morquio A patients' fibroblasts.
Clinica chimica acta; international journal of clinical chemistry - 1 Nov 2008
Carraresi L, Parini R, Filoni C, Caciotti A, Sersale G, Tomatsu S, Orlando C, Zammarchi E, Guerrini R, Donati M A, Morrone A
Abstract excerpt
BACKGROUND: Quantification studies of mutated mRNAs have not been carried out on Morquio A patients. Such studies are very important for the determination of stability of premature termination codons (PTC) bearing transcripts in order to assess the appropriateness of introducing the newly developed therapeutic strategies such as "stop codon read-through therapy". METHODS: This paper focuses on the study of the...
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