Identification of a novel heterozygous missense mutation of SEMA3E (c.1327G>A; p. Ala443Thr) in a labor induced fetus with CHARGE syndrome

BACKGROUND: CHARGE syndrome is a complex multisystem genetic disease. We aimed to find the potential gene mutation in the labor induced fetus with CHARGE syndrome. METHODS: Genomic DNA was extracted from the fetal thigh muscle tissue and the peripheral blood of his parents. The resulting exomes were...

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Detalles Bibliográficos
Autores principales: Song, Xiao, Wang, Xueyan, Ding, Li, He, Dan, Sun, Jin, Xi, Na, Yin, Yan, Peng, Hui, Sun, Lingling
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6978240/
https://www.ncbi.nlm.nih.gov/pubmed/31691538
http://dx.doi.org/10.1002/mgg3.1034

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6978240/
https://www.ncbi.nlm.nih.gov/pubmed/31691538
http://dx.doi.org/10.1002/mgg3.1034

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