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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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Bibliografiske detaljer
Udgivet i:Nucleic Acids Res
Principais autores: Theophilus, B D, Latham, T, Grabowski, G A, Smith, F I
Format: Artigo
Sprog:Inglês
Udgivet: Oxford University Press 1989
Online adgang:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC334879/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/2508065/
https://ncbi.nlm.nih.govhttps://doi.org/10.1093/nar/17.19.7707
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