Extending the clinical spectrum of SPG3A mutations to a very severe and very early complicated phenotype - PubMed (original) (raw)
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Extending the clinical spectrum of SPG3A mutations to a very severe and very early complicated phenotype
J Haberlová et al. J Neurol. 2008 Jun.
No abstract available
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References
- Nucleic Acids Res. 2005 Jan 1;33(Database issue):D192-6 - PubMed
- Neurology. 2003 Aug 26;61(4):580-1 - PubMed
- Arch Neurol. 2007 May;64(5):706-13 - PubMed
- J Neurol. 2005 Aug;252(8):901-3 - PubMed
- Nat Genet. 2001 Nov;29(3):326-31 - PubMed
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