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Complex alleles of the acid beta-glucosidase gene in Gaucher disease.

Gaucher disease is inherited in an autosomal recessive manner and is the most prevalent lysosomal storage disease. Gaucher disease has marked phenotypic variation and molecular heterogeneity, and seven point mutations in the acid beta-glucosidase (beta-Glc) gene have been identified. By means of seq...

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Detalhes bibliográficos
Main Authors: Latham, T, Grabowski, G A, Theophilus, B D, Smith, F I
Formato: Artigo
Idioma:Inglês
Publicado em: 1990
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1683763/
https://ncbi.nlm.nih.gov/pubmed/2349952
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