A novel mechanism for variable phenotypic expressivity in Mendelian diseases uncovered by an AU-rich...
A novel mechanism for variable phenotypic expressivity in Mendelian diseases uncovered by an AU-rich element (ARE)-creating mutation
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Publisher
England: BioMed Central Ltd
Journal title
Language
English
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Publisher
England: BioMed Central Ltd
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Scope and Contents
Contents
Variable expressivity is a well-known phenomenon in which patients with mutations in one gene display varying degrees of clinical severity, potentially displaying only subsets of the clinical manifestations associated with the multisystem disorder linked to the gene. This remains an incompletely understood phenomenon with proposed mechanisms rangin...
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Full title
A novel mechanism for variable phenotypic expressivity in Mendelian diseases uncovered by an AU-rich element (ARE)-creating mutation
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TN_cdi_doaj_primary_oai_doaj_org_article_1b2694375998473488e8741b9e6ca008
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_1b2694375998473488e8741b9e6ca008
Other Identifiers
ISSN
1474-760X,1474-7596
E-ISSN
1474-760X
DOI
10.1186/s13059-017-1274-3
