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Gaucher disease: molecular screening of the glucocerebrosidase 1601G and 1601A alleles in Victoria, British Columbia, Canada.
Gaucher disease is the most prevalent lysosomal storage disease and it results from inherited deficient glucocerebrosidase activity. The glucocerebrosidase gene from normal people was sequenced by several laboratories and it was noted that a G or A nucleotide may be present at cDNA position 1601, re...
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| Hauptverfasser: | , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
1997
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1050853/ https://ncbi.nlm.nih.gov/pubmed/9032656 |
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