| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 10833899 | Molecular Genetics and Metabolism | 2012 | 5 Pages |
Abstract
⺠First case of Lysosomal Storage Disease due to Maternal Uniparental Isodisomy. ⺠First case reported homozygote for p.Cys79Tyr mutation affecting GALNS active site. ⺠The possibility of UPD has relevant implications for genetic counseling.
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Authors
S. Catarzi, L. Giunti, F. Papadia, O. Gabrielli, R. Guerrini, M.A. Donati, M. Genuardi, A. Morrone,