Gaucher disease: molecular heterogeneity and phenotype-genotype correlations.

Gaucher disease (GD) is the most prevalent lysosomal storage disease. This autosomal recessive trait results from the defective activity of acid beta-glucosidase (beta-Glc). Four different exonic point mutations have been identified as causal alleles for GD. To facilitate screening for these alleles...

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Detalles Bibliográficos
Main Authors: Theophilus, B, Latham, T, Grabowski, G A, Smith, F I
Formato: Artigo
Idioma:Inglês
Publicado: 1989
Assuntos:
Research Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC1683351/
https://ncbi.nlm.nih.gov/pubmed/2502917
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