ASAH1 variant causing a mild SMA phenotype with no myoclonic epilepsy: a clinical, biochemical and molecular study
- 30 March 2016
- journal article
- Published by Springer Nature in European Journal of Human Genetics
- Vol. 24 (11) , 1578-1583
Abstract
The European Journal of Human Genetics is the official Journal of the European Society of Human Genetics, publishing high-quality, original research papers, short reports, News and Commentary articles and reviews in the rapidly expanding field of human genetics and genomics.Keywords
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