Large-Scale Whole Genome Sequence Analysis of >22,000 Subjects Provides no Evidence of FMR1 Premutation Allele Involvement in Autism Spectrum Disorder

Expansion of a CGG repeat in the Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene on the X chromosome is the cause of Fragile X Syndrome (FXS). The repeat length of unaffected individuals varies between 5–40 repeats, whereas >200 repeats are observed in cases of FXS. The intermediate range bet...

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Detalles Bibliográficos
Autores principales: Chubick, Alex, Wang, Evan, Au, Cora, Grody, Wayne W., Ophoff, Roel A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10454383/
https://www.ncbi.nlm.nih.gov/pubmed/37628570
http://dx.doi.org/10.3390/genes14081518

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10454383/
https://www.ncbi.nlm.nih.gov/pubmed/37628570
http://dx.doi.org/10.3390/genes14081518

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