EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disorders

Different mutations occurring in the unstable CGG repeat in 5' untranslated region of FMR1 gene are responsible for three fragile X-associated disorders. An expansion of over ∼200 CGG repeats when associated with abnormal methylation and inactivation of the promoter is the mutation termed ‘full...

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Detalles Bibliográficos
Autores principales: Biancalana, Valérie, Glaeser, Dieter, McQuaid, Shirley, Steinbach, Peter
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2015
Materias:
Policy
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4666582/
https://www.ncbi.nlm.nih.gov/pubmed/25227148
http://dx.doi.org/10.1038/ejhg.2014.185

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