A novel fragile X syndrome mutation reveals a conserved role for the carboxy‐terminus in FMRP locali...
A novel fragile X syndrome mutation reveals a conserved role for the carboxy‐terminus in FMRP localization and function
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Publisher
London: Nature Publishing Group UK
Journal title
Language
English
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Publication information
Publisher
London: Nature Publishing Group UK
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Scope and Contents
Contents
Loss of function of the
FMR1
gene leads to fragile X syndrome (FXS), the most common form of intellectual disability. The loss of
FMR1
function is usually caused by epigenetic silencing of the
FMR1
promoter leading to expansion and subsequent methylation of a CGG repeat in the 5′ untranslated region. Very few coding sequence varia...
Alternative Titles
Full title
A novel fragile X syndrome mutation reveals a conserved role for the carboxy‐terminus in FMRP localization and function
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TN_cdi_doaj_primary_oai_doaj_org_article_97ced3301746408890cf35b88d3c70ea
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_97ced3301746408890cf35b88d3c70ea
Other Identifiers
ISSN
1757-4676
E-ISSN
1757-4684
DOI
10.15252/emmm.201404576
