Published in
Springer Nature [academic journals on nature.com], European Journal of Human Genetics, 11(24), p. 1578-1583, 2016
DOI: 10.1038/ejhg.2016.28
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- Springer Nature [academic journals on nature.com] | PDF
- [www.ncbi.nlm.nih.gov] | PDF
- [europepmc.org] | PDF
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ASAH1 variant causing a mild SMA phenotype with no myoclonic epilepsy: a clinical, biochemical and molecular study
Journal article published in 2016 by
Massimiliano Filosto,
Massimo Aureli 
,
Barbara Castellotti,
Fabrizio Rinaldi,
Domitilla Schiumarini,
Manuela Valsecchi,
Susanna Lualdi,
Raffaella Mazzotti,
Viviana Pensato,
Silvia Rota,
Cinzia Gellera ,
Mirella Filocamo,
Alessandro Padovani
,
Barbara Castellotti,
Fabrizio Rinaldi,
Domitilla Schiumarini,
Manuela Valsecchi,
Susanna Lualdi,
Raffaella Mazzotti,
Viviana Pensato,
Silvia Rota,
Cinzia Gellera ,
Mirella Filocamo,
Alessandro Padovani
This paper is made freely available by the publisher.
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