Mutations of glucocerebrosidase: discrimination of neurologic and non-neurologic phenotypes of Gaucher disease.

Multiple molecular forms of beta-glucocerebrosidase that permit discrimination between neurologic and non-neurologic phenotypes of Gaucher disease have been identified radioimmunologically in fibroblasts and human brain tissue. In normal human fibroblasts these forms have been shown by NaDodSO4/poly...

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Publicat a:Proc Natl Acad Sci U S A
Autors principals: Ginns, E I, Brady, R O, Pirruccello, S, Moore, C, Sorrell, S, Furbish, F S, Murray, G J, Tager, J, Barranger, J A
Format: Artigo
Idioma:Inglês
Publicat: National Academy of Sciences 1982
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC346953/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/6957882/
https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.79.18.5607
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