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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....
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Dove Medical Press
2011
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3658231/ https://www.ncbi.nlm.nih.gov/pubmed/23754899 http://dx.doi.org/10.2147/IMCRJ.S17144 |