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Repositório Científico do Instituto Nacional de Saúde >
Departamento de Genética Humana >
DGH - Posters/abstracts em congressos nacionais >
Please use this identifier to cite or link to this item:
http://hdl.handle.net/10400.18/750
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| Title: | Genetic variation in CHIT 1 |
| Authors: | Duarte, Ana
Ribeiro, Diogo
Amaral, Olga |
| Keywords: | Doenças Genéticas
CHIT1
Genetic Disease |
| Issue Date: | Nov-2011 |
| Publisher: | SPDM |
| Abstract: | Chitotriosidase (EC.3.2.1.14) is an enzyme secreted by activated macrophages. This chitinase is useful as a biochemical marker in several lysosomal and nonlysosomal diseases due to its increased activity in such conditions (MIM#600031. CHIT1 variants may account for additional biochemical variability and should be considered when using chitotriosidase activity as a secondary evaluation marker in diagnosis and disease prognosis. |
| Peer Reviewed: | yes |
| URI: | http://hdl.handle.net/10400.18/750 |
| Appears in Collections: | DGH - Posters/abstracts em congressos nacionais
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