A novel mechanism for variable phenotypic expressivity in Mendelian diseases uncovered by an AU-rich element (ARE)-creating mutation

BACKGROUND: 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 inco...

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Detalles Bibliográficos
Autores principales: Patel, Nisha, Khan, Arif O., Al-Saif, Maher, Moghrabi, Walid N., AlMaarik, Balsam M., Ibrahim, Niema, Abdulwahab, Firdous, Hashem, Mais, Alshidi, Tarfa, Alobeid, Eman, Alomar, Rana A., Al-Harbi, Saad, Abouelhoda, Mohamed, Khabar, Khalid S. A., Alkuraya, Fowzan S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5534118/
https://www.ncbi.nlm.nih.gov/pubmed/28754144
http://dx.doi.org/10.1186/s13059-017-1274-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5534118/
https://www.ncbi.nlm.nih.gov/pubmed/28754144
http://dx.doi.org/10.1186/s13059-017-1274-3

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