A Mouse Model of the Human Fragile X Syndrome I304N Mutation
A Mouse Model of the Human Fragile X Syndrome I304N Mutation
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United States: Public Library of Science
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English
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United States: Public Library of Science
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Contents
The mental retardation, autistic features, and behavioral abnormalities characteristic of the Fragile X mental retardation syndrome result from the loss of function of the RNA-binding protein FMRP. The disease is usually caused by a triplet repeat expansion in the 5'UTR of the FMR1 gene. This leads to loss of function through transcriptional gene s...
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A Mouse Model of the Human Fragile X Syndrome I304N Mutation
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TN_cdi_plos_journals_1313549086
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1313549086
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ISSN
1553-7404,1553-7390
E-ISSN
1553-7404
DOI
10.1371/journal.pgen.1000758