Development of Chinese genetic reference panel for Fragile X Syndrome and its application to the screen of 10,000 Chinese pregnant women and women planning pregnancy

BACKGROUND: Fragile X syndrome (FXS) is the most common inherited form of intellectual disability caused by a CGG repeat expansion in the 5′ untranslated region of the FMR1 gene. When the number of repeats exceeds 200, the gene becomes hypermethylated and is transcriptionally silenced, resulting in...

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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: Gao, Fei, Huang, Wen, You, Yanjun, Huang, Jie, Zhao, Juan, Xue, Jin, Kang, Huaixing, Zhu, Yingbao, Hu, Zhengmao, Allen, Emily G., Jin, Peng, Xia, Kun, Duan, Ranhui
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2020
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Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7284044/
https://ncbi.nlm.nih.gov/pubmed/32281281
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1236
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