The International Fragile X Premutation Registry: building a resource for research and clinical trial readiness

FMR1 premutation cytosine-guanine-guanine repeat expansion alleles are relatively common mutations in the general population that are associated with a neurodegenerative disease (fragile X-associated tremor/ataxia syndrome), reproductive health problems and potentially a wide range of additional men...

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Detalles Bibliográficos
Autores principales: Hessl, David, Rosselot, Hilary, Miller, Robert, Espinal, Glenda, Famula, Jessica, Sherman, Stephanie L, Todd, Peter K, Cabal Herrera, Ana Maria, Lipworth, Karen, Cohen, Jonathan, Hall, Deborah A, Leehey, Maureen, Grigsby, Jim, Weber, Jayne Dixon, Alusi, Sundus, Wheeler, Anne, Raspa, Melissa, Hudson, Tamaro, Sobrian, Sonya K
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2022
Materias:
Therapeutics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9691813/
https://www.ncbi.nlm.nih.gov/pubmed/35701103
http://dx.doi.org/10.1136/jmedgenet-2022-108568

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9691813/
https://www.ncbi.nlm.nih.gov/pubmed/35701103
http://dx.doi.org/10.1136/jmedgenet-2022-108568

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