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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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Autores principales: Latham, T, Grabowski, G A, Theophilus, B D, Smith, F I
Formato: Artigo
Lenguaje:Inglês
Publicado: 1990
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1683763/
https://ncbi.nlm.nih.gov/pubmed/2349952
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