Issue Date | Title | Author(s) | Relation | scopus | WOS | Fulltext/Archive link |
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1994 | A splice junction mutation in a new myopathic variant of phosphoglycerate kinase deficiency (PGK North Carolina) | Tsujino, S.; Tonin, P.; Shanske, S.; Nohria, V.; Boustany, R. M.; Lewis, D.; Chen, Y. T.; DiMauro, S. | Ann Neurol 35, 349-353 |