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Homozygous N396T mutation in Gaucher disease: Portuguese sisters with markedly different phenotypes
Gaucher disease (GD) is characterized by reduced activity of glucocerebrosidase leading to complications in the reticuloendothelial system. N396T, a rarer mutation of the glucocerebrosidase gene, has been encountered in Portuguese populations and has generally been associated with milder phenotypes....
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| Main Authors: | , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Dove Medical Press
2011
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3658231/ https://ncbi.nlm.nih.gov/pubmed/23754899 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2147/IMCRJ.S17144 |
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