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Characterization of mutations in Gaucher patients by cDNA cloning.
Mutated cDNA clones containing the entire coding sequence of human glucocerebrosidase were isolated from libraries originated from Gaucher patients. Sequence analysis of a mutated cDNA derived from a type II Gaucher patient revealed a C-to-G transversion causing a substitution of an arginine for a p...
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| Main Authors: | , , , , , , |
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| Format: | Artigo |
| Language: | Inglês |
| Published: |
1989
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| Subjects: | |
| Online Access: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1715434/ https://ncbi.nlm.nih.gov/pubmed/2464926 |
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