Case report: genetic analysis of a novel frameshift mutation in FMR1 gene in a Chinese family

Fragile X syndrome (FXS) [OMIM 300624] is a common X-linked inherited syndrome with an incidence only second to that of trisomy 21. More than 95% of fragile X syndrome is caused by reduced or absent fragile X intellectual disability protein 1 (FMRP) synthesis due to dynamic mutation expansion of the...

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Detalles Bibliográficos
Autores principales: Jin, Chunlei, Zhang, Xiangdong, Lei, Qiang, Chen, Penglong, Hu, Hui, Shen, Shuangshuang, Liu, Jiao, Ye, Shixuanbao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10512415/
https://www.ncbi.nlm.nih.gov/pubmed/37745859
http://dx.doi.org/10.3389/fgene.2023.1228682

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10512415/
https://www.ncbi.nlm.nih.gov/pubmed/37745859
http://dx.doi.org/10.3389/fgene.2023.1228682

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