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A Mouse Model of the Human Fragile X Syndrome I304N Mutation

A Mouse Model of the Human Fragile X Syndrome I304N Mutation

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1313549086

A Mouse Model of the Human Fragile X Syndrome I304N Mutation

About this item

Full title

A Mouse Model of the Human Fragile X Syndrome I304N Mutation

Publisher

United States: Public Library of Science

Journal title

PLoS genetics, 2009-12, Vol.5 (12), p.e1000758-e1000758

Language

English

Formats

Publication information

Publisher

United States: Public Library of Science

More information

Scope and Contents

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...

Alternative Titles

Full title

A Mouse Model of the Human Fragile X Syndrome I304N Mutation

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_plos_journals_1313549086

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1313549086

Other Identifiers

ISSN

1553-7404,1553-7390

E-ISSN

1553-7404

DOI

10.1371/journal.pgen.1000758

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