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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Principais autores:	Chunlei Jin, Xiangdong Zhang, Qiang Lei, Penglong Chen, Hui Hu, Shuangshuang Shen, Jiao Liu, Shixuanbao Ye
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Frontiers Media S.A. 2023-09-01
Colecção:	Frontiers in Genetics
Assuntos:	FMR1 WES FMRP fragile X syndrome CGG repeat expansion
Acesso em linha:	https://www.frontiersin.org/articles/10.3389/fgene.2023.1228682/full
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