A feasibility study of noninvasive prenatal diagnosis in facioscapulohumeral muscular dystrophy type 1 in a Chinese family

Objective: To demonstrate the feasibility of haplotype-based noninvasive prenatal diagnosis of Facioscapulohumeral Muscular Dystrophy type 1 (FSHD1). Methods: Bionano optical mapping was used to identify the D4Z4 structural variation of the genomic DNA sample from the proband affected with FSHD1. In...

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Detalles Bibliográficos
Autores principales: Qin, Yayun, Xu, Hui, Yang, Jingmin, Wu, Yiming, Li, Hui, Wang, Bo, Liu, Lijun, Ren, Ding, Xu, Runhong, Li, Manman, Zhang, Chengcheng, Song, Jieping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9641267/
https://www.ncbi.nlm.nih.gov/pubmed/36386852
http://dx.doi.org/10.3389/fgene.2022.1046096

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