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Salbutamol increases SMN mRNA and protein levels in spinal muscular atrophy cells

11 Oct 2007

Abstract excerpt

Spinal muscular atrophy (SMA) is an inherited neuromuscular disorder caused by homozygous absence of the survival motor neuron gene (SMN1). All patients have at least one, usually two to four copies of the related SMN2 gene which, however, produce insufficient levels of functional SMN protein due to the exclusion of exon 7 in the majority of SMN2 transcripts. Here, we show that salbutamol, a beta2-adrenoceptor...

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Identifiers

PMID: 17932121
DOI: 10.1136/jmg.2007.051177

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