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Comparison of RNase A, a chemical cleavage and GC-clamped denaturing gradient gel electrophoresis for the detection of mutations in exon 9 of the human acid beta-glucosidase gene.

Gaucher disease (GD), which results from mutations in the human acid beta-glucosidase (beta-Glc) gene, was used as a model system to compare the utility of three methods capable of detecting single base substitutions. PCR-amplified beta-Glc exon 9 sequences of GD patients were screened for single ba...

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Detalhes bibliográficos
Main Authors: Theophilus, B D, Latham, T, Grabowski, G A, Smith, F I
Formato: Artigo
Idioma:Inglês
Publicado em: 1989
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC334879/
https://ncbi.nlm.nih.gov/pubmed/2508065
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