FMR1 CGG repeat expansion mutation detection and linked haplotype analysis for reliable and accurate preimplantation genetic diagnosis of fragile X syndrome

Fragile X mental retardation 1 (FMR1) full-mutation expansion causes fragile X syndrome. Trans-generational fragile X syndrome transmission can be avoided by preimplantation genetic diagnosis (PGD). We describe a robust PGD strategy that can be applied to virtually any couple at risk of transmitting...

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Detalles Bibliográficos
Autores principales: Rajan-Babu, Indhu-Shree, Lian, Mulias, Cheah, Felicia S.H., Chen, Min, Tan, Arnold S.C., Prasath, Ethiraj B., Loh, Seong Feei, Chong, Samuel S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cambridge University Press 2017
Materias:
Discovery
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5733830/
https://www.ncbi.nlm.nih.gov/pubmed/28720156
http://dx.doi.org/10.1017/erm.2017.10

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