| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 5907079 | Gene | 2013 | 4 Pages |
Abstract
⺠We review GLB1 mutations and clinical features from 65 Brazilian patients. ⺠Molecular analysis showed 18 different mutations. ⺠Cognitive impairment was the main clinical sign, followed by hepatosplenomegaly. ⺠A significant correlation between age and the presence of mutation was observed. ⺠Overall our findings differ from literature, both at clinical and molecular level.
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Genetics
Authors
Fernanda Sperb, Filippo Vairo, Maira Burin, Fabiana Quoos Mayer, Ursula Matte, Roberto Giugliani,