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Human Chitotriosidase Polymorphisms G354R and A442V Associated with Reduced Enzyme Activity
A common polymorphism in the chitotriosidase gene (CHIT1) exists in which a 24 bp duplication in exon 10 results in aberrant splicing and deletion of 87 nucleotides. In this study the gene frequency was found to be 0.56 (n=2054) in subjects of Asian ancestry, 0.17 (n=984) in subjects of European anc...
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| Main Authors: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
2007
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2696477/ https://ncbi.nlm.nih.gov/pubmed/17693102 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bcmd.2007.06.013 |
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