A single-base-pair deletion in the beta-glucuronidase gene accounts for the phenotype of murine mucopolysaccharidosis type VII.
Murine mucopolysaccharidosis type VII is a heritable disease caused by a spontaneous mutation, gus(mps), closely linked to the beta-glucuronidase structural gene on chromosome 5. Mice homozygous for the mutation have a > 200-fold decrease in beta-glucuronidase mRNA levels and virtually no enzyme act...
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| Published in: | Proc Natl Acad Sci U S A |
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| Main Authors: | , |
| Format: | Artigo |
| Language: | Inglês |
| Published: |
National Academy of Sciences
1993
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| Subjects: | |
| Online Access: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC46973/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8101990/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.90.14.6567 |
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