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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...

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Bibliographic Details
Main Authors: Sands, M S, Birkenmeier, E H
Format: Artigo
Language:Inglês
Published: 1993
Subjects:
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC46973/
https://ncbi.nlm.nih.gov/pubmed/8101990
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