Development and validation in 500 female samples of a TP-PCR assay to identify AFF2 GCC expansions

Over 100 X-linked intellectual disability genes have been identified, with triplet repeat expansions at the FMR1 (FRAXA) and AFF2 (FRAXE) genes being the causative agent in two of them. The absence of FRAXE pathognomonic features hampers early recognition, delaying testing and molecular confirmation...

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Detalles Bibliográficos
Autores principales: Silva, Cecília, Maia, Nuno, Santos, Flávia, Rodrigues, Bárbara, Marques, Isabel, Santos, Rosário, Jorge, Paula
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8289994/
https://www.ncbi.nlm.nih.gov/pubmed/34282157
http://dx.doi.org/10.1038/s41598-021-93473-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8289994/
https://www.ncbi.nlm.nih.gov/pubmed/34282157
http://dx.doi.org/10.1038/s41598-021-93473-5

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