Quantification of SMN protein in leucocytes from spinal muscular atrophy patients: effects of treatm...
Quantification of SMN protein in leucocytes from spinal muscular atrophy patients: effects of treatment with valproic acid
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London: BMJ Publishing Group Ltd
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Language
English
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London: BMJ Publishing Group Ltd
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BackgroundSpinal muscular atrophy (SMA) is caused by the homozygous deletion of the survival motor neuron (SMN)1 gene. The nearly identical SMN2 gene produces small amounts of full-length mRNA and functional SMN protein, due to a point mutation in a critical splicing site. Increasing SMN protein production by histone deacetylase inhibiting drugs su...
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Full title
Quantification of SMN protein in leucocytes from spinal muscular atrophy patients: effects of treatment with valproic acid
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TN_cdi_proquest_miscellaneous_904472338
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_904472338
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ISSN
0022-3050
E-ISSN
1468-330X
DOI
10.1136/jnnp.2009.200253
