FMR1 premutation frequency in a large, ethnically diverse population referred for carrier testing

Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability and is caused by an expansion of cytosine‐guanine‐guanine (CGG) repeats in the FMR1 gene. Female premutation allele carriers (55–200 CGG repeats) are at risk to have an affected child. Currently, specific populati...

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Detalles Bibliográficos
Autores principales: Owens, Kailey M., Dohany, Lindsay, Holland, Carol, DaRe, Jeana, Mann, Tobias, Settler, Christina, Longman, Ryan E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6001625/
https://www.ncbi.nlm.nih.gov/pubmed/29603880
http://dx.doi.org/10.1002/ajmg.a.38692

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6001625/
https://www.ncbi.nlm.nih.gov/pubmed/29603880
http://dx.doi.org/10.1002/ajmg.a.38692

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