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Glucocerebrosidase mutations in Gaucher disease.

BACKGROUND: Thirty-six mutations that cause Gaucher disease, the most common glycolipid storage disorder, are known. Although both alleles of most patients with the disease contain one of these mutations, in a few patients one or both disease-producing alleles have remained unidentified. Identificat...

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Detalles Bibliográficos
Main Authors: Beutler, E., Demina, A., Gelbart, T.
Formato: Artigo
Idioma:Inglês
Publicado: The Feinstein Institute for Medical Research 1994
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC2229932/
https://ncbi.nlm.nih.gov/pubmed/8790604
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