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Characterisation of SMN hybrid genes in Spanish SMA patients: de novo, homozygous and compound heterozygous cases.
- Published in:
- Human Genetics, 2001, v. 108, n. 3, p. 222, doi. 10.1007/s004390000452
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- Publication type:
- Article
Treatment of spinal muscular atrophy cells with drugs that upregulate SMN expression reveals inter- and intra-patient variability.
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- European Journal of Human Genetics, 2011, v. 19, n. 10, p. 1059, doi. 10.1038/ejhg.2011.89
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- Publication type:
- Article
Implementation of SMA carrier testing in genetic laboratories: comparison of two methods for quantifying the SMN1 gene.
- Published in:
- Human Mutation, 2002, v. 20, n. 6, p. 452, doi. 10.1002/humu.10144
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- Publication type:
- Article