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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Detalles Bibliográficos
Autores principales: Kimball, Samantha, Choy, Francis, Zay, Agnes, Amato, Dominick
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove Medical Press 2011
Materias:
Case Report
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

Internet

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

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